(used for variant description)
(last modified July 27, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002460.3 in the IRF4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027728.1, covering IRF4 transcript NM_002460.3.
(upstream sequence)
g.5006
acctcg c.-121
. . . . . . g.5066
cactctcagtttcaccgctcgatcttgggacccaccgctgccctcagctccgagtccagg c.-61
. | 02 . . . . . g.6414
gcgag | tgcagagcagagcgggcggaggaccccgggcgcgggcgcggacggcacgcggggc c.-1
. . . . . . g.6474
ATGAACCTGGAGGGCGGCGGCCGAGGCGGAGAGTTCGGCATGAGCGCGGTGAGCTGCGGC c.60
M N L E G G G R G G E F G M S A V S C G p.20
. . . . . . g.6534
AACGGGAAGCTCCGCCAGTGGCTGATCGACCAGATCGACAGCGGCAAGTACCCCGGGCTG c.120
N G K L R Q W L I D Q I D S G K Y P G L p.40
. . . . . . g.6594
GTGTGGGAGAACGAGGAGAAGAGCATCTTCCGCATCCCCTGGAAGCACGCGGGCAAGCAG c.180
V W E N E E K S I F R I P W K H A G K Q p.60
. . . | 03 . . . g.8106
GACTACAACCGCGAGGAGGACGCCGCGCTCTTCAAG | GCTTGGGCACTGTTTAAAGGAAAG c.240
D Y N R E E D A A L F K | A W A L F K G K p.80
. . . . . . g.8166
TTCCGAGAAGGCATCGACAAGCCGGACCCTCCCACCTGGAAGACGCGCCTGCGGTGCGCT c.300
F R E G I D K P D P P T W K T R L R C A p.100
. . . . . . g.8226
TTGAACAAGAGCAATGACTTTGAGGAACTGGTTGAGCGGAGCCAGCTGGACATCTCAGAC c.360
L N K S N D F E E L V E R S Q L D I S D p.120
. . . . | 04 . . g.9125
CCGTACAAAGTGTACAGGATTGTTCCTGAGGGAGCCAAAAAAG | GAGCCAAGCAGCTCACC c.420
P Y K V Y R I V P E G A K K G | A K Q L T p.140
. . . . . . g.9185
CTGGAGGACCCGCAGATGTCCATGAGCCACCCCTACACCATGACAACGCCTTACCCTTCG c.480
L E D P Q M S M S H P Y T M T T P Y P S p.160
. | 05 . . . . . g.10417
CTCCCAGCCCAG | CAGGTTCACAACTACATGATGCCACCCCTCGACCGAAGCTGGAGGGAC c.540
L P A Q | Q V H N Y M M P P L D R S W R D p.180
. . . . . . g.10477
TACGTCCCGGATCAGCCACACCCGGAAATCCCGTACCAATGTCCCATGACGTTTGGACCC c.600
Y V P D Q P H P E I P Y Q C P M T F G P p.200
. . . | 06. . . g.12112
CGCGGCCACCACTGGCAAGGCCCAGCTTGTGAAAATG | GTTGCCAGGTGACAGGAACCTTT c.660
R G H H W Q G P A C E N G | C Q V T G T F p.220
. . . . . . g.12172
TATGCTTGTGCCCCACCTGAGTCCCAGGCTCCCGGAGTCCCCACAGAGCCAAGCATAAGG c.720
Y A C A P P E S Q A P G V P T E P S I R p.240
. . | 07 . . . . g.14720
TCTGCCGAAGCCTTGGCGTTCTCAG | ACTGCCGGCTGCACATCTGCCTGTACTACCGGGAA c.780
S A E A L A F S D | C R L H I C L Y Y R E p.260
. . . . . . g.14780
ATCCTCGTGAAGGAGCTGACCACGTCCAGCCCCGAGGGCTGCCGGATCTCCCATGGACAT c.840
I L V K E L T T S S P E G C R I S H G H p.280
. . . . . . g.14840
ACGTATGACGCCAGCAACCTGGACCAGGTCCTGTTCCCCTACCCAGAGGACAATGGCCAG c.900
T Y D A S N L D Q V L F P Y P E D N G Q p.300
. . . . . . g.14900
AGGAAAAACATTGAGAAGCTGCTGAGCCACCTGGAGAGGGGCGTGGTCCTCTGGATGGCC c.960
R K N I E K L L S H L E R G V V L W M A p.320
. . . . . . g.14960
CCCGACGGGCTCTATGCGAAAAGACTGTGCCAGAGCAGGATCTACTGGGACGGGCCCCTG c.1020
P D G L Y A K R L C Q S R I Y W D G P L p.340
. . . . . . g.15020
GCGCTGTGCAACGACCGGCCCAACAAACTGGAGAGAGACCAGACCTGCAAGCTCTTTGAC c.1080
A L C N D R P N K L E R D Q T C K L F D p.360
. | 08 . . . . g.18320
ACACAGCAGTTCTTGTCAG | AGCTGCAAGCGTTTGCTCACCACGGCCGCTCCCTGCCAAGA c.1140
T Q Q F L S E | L Q A F A H H G R S L P R p.380
. . . . . . g.18380
TTCCAGGTGACTCTATGCTTTGGAGAGGAGTTTCCAGACCCTCAGAGGCAAAGAAAGCTC c.1200
F Q V T L C F G E E F P D P Q R Q R K L p.400
. | 09 . . . . . g.20764
ATCACAGCTCAC | GTAGAACCTCTGCTAGCCAGACAACTATATTATTTTGCTCAACAAAAC c.1260
I T A H | V E P L L A R Q L Y Y F A Q Q N p.420
. . . . . . g.20824
AGTGGACATTTCCTGAGGGGCTACGATTTACCAGAACACATCAGCAATCCAGAAGATTAC c.1320
S G H F L R G Y D L P E H I S N P E D Y p.440
. . . g.20860
CACAGATCTATCCGCCATTCCTCTATTCAAGAATGA c.1356
H R S I R H S S I Q E X p.451
. . . . . . g.20920
aaaatgtcaagatgagtggttttctttttcctttttttttttttttttttgatacgggga c.*60
. . . . . . g.20980
tacggggtcttgctctgtctcccaggctggagtgcagtgacacaatctcagctcactgtg c.*120
. . . . . . g.21040
acctccgcctcctgggttcaagagactctcctgcctcagcctccctggtagctgggatta c.*180
. . . . . . g.21100
caggtgtgagccactgcacccacccaagacaagtgattttcattgtaaatatttgacttt c.*240
. . . . . . g.21160
agtgaaagcgtccaattgactgccctcttactgttttgaggaattcagaagtggagattt c.*300
. . . . . . g.21220
cagttcagcggttgaggagaattgcggcgagacaagcatggaaaatcagtgacatctgat c.*360
. . . . . . g.21280
tggcagatgagcttatttcaaaaggaagggtggctttgcatttcttgtgttctgtagact c.*420
. . . . . . g.21340
gccatcattgatgatcactgtgaaaattgaccaagtgatgtgtttacatttactgaaatg c.*480
. . . . . . g.21400
cgctctttaatttgttgtagattaggtcttgctggaagacagagaaaacttgcctttcag c.*540
. . . . . . g.21460
tattgacactgactagagtgatgactgcttgtaggtatgtctgtgccatttctcagggaa c.*600
. . . . . . g.21520
gtaagatgtaaattgaagaagcctcacacgtaaaagaaatgtattaatgtatgtaggagc c.*660
. . . . . . g.21580
tgcagttcttgtggaagacacttgctgagtgaaggaaatgaatctttgactgaagccgtg c.*720
. . . . . . g.21640
cctgtagccttggggaggcccatcccccacctgccagcggtttcctggtgtgggtccctc c.*780
. . . . . . g.21700
tgccccgccctccttcccattggctttctctccttggcctttcctggaagccagttagta c.*840
. . . . . . g.21760
aacttcctattttcttgagtcaaaaaacatgagcgctactcttggatgggacatttttgt c.*900
. . . . . . g.21820
ctgtcctacaatctagtaatgtctaagtaatggttaagttttcttgtttctgcatctttt c.*960
. . . . . . g.21880
tgaccctcattctttagagatgctaaaattcttcgcataaagaagaagaaattaaggaac c.*1020
. . . . . . g.21940
ataaatcttaatacttgaactgttgcccttctgtccaagtacttaactatctgttccctt c.*1080
. . . . . . g.22000
cctctgtgccacgctcctctgtttgtttggctgtccagcgatcagccatggcgacactaa c.*1140
. . . . . . g.22060
aggaggaggagccggggactcccaggctggagagcactgccaggacccaccactggaagc c.*1200
. . . . . . g.22120
aggatggagctgactacggaactgcacactcagtgggctgtttctgcttatttcatctgt c.*1260
. . . . . . g.22180
tctatgcttcctcgtgccaattatagtttgacagggccttaaaattacttggctttttcc c.*1320
. . . . . . g.22240
aaatgcttctatttatagaatcccaaagacctccacttgcttaagtatacctatcactta c.*1380
. . . . . . g.22300
catttttgtggttttgagaaagtacagcagtagactggggcgtcacctccaggccgtttc c.*1440
. . . . . . g.22360
tcatactacaggatatttactattactcccaggatcagcagaagattgcgtagctctcaa c.*1500
. . . . . . g.22420
atgtgtgttcctgcttttctaatggatattttaaattcattcaacaagcacctagtaagt c.*1560
. . . . . . g.22480
gcctgctgtatccctacattacacagttcagcctttatcaagcttagtgagcagtgagca c.*1620
. . . . . . g.22540
ctgaaacattattttttaatgtttaaaaagtttctaatattaaagtcagaatattaatac c.*1680
. . . . . . g.22600
aattaatattaatattaactacagaaaagacaaacagtagagaacagcaaaaaaataaaa c.*1740
. . . . . . g.22660
aggatctccttttttcccagcccaaattctcctctctaaaagtgtccacaagaaggggtg c.*1800
. . . . . . g.22720
tttattcttccaacacatttcacttttctgtaaatatacataaacttaaaaagaaaacct c.*1860
. . . . . . g.22780
catggagtcatcttgcacacactttcatgcagtgctctttgtagctaacagtgaagattt c.*1920
. . . . . . g.22840
acctcgttctgctcagaggccttgctgtggagctccactgccatgtacccagtagggttt c.*1980
. . . . . . g.22900
gacatttcattagccatgcaacatggatatgtattgggcagcagactgtgtttcgtgaac c.*2040
. . . . . . g.22960
tgcagtgatgtatacatcttatagatgcaaagtattttggggtatattatcctaagggaa c.*2100
. . . . . . g.23020
gataaagatgatattaagaactgctgtttcacggggcccttacctgtgaccctctttgct c.*2160
. . . . . . g.23080
gaagaatatttaaccccacacagcacttcaaagaagctgtcttggaagtctgtctcagga c.*2220
. . . . . . g.23140
gcaccctgtcttcttaattctccaagcggatgctccatttcaattgctttgtgacttctt c.*2280
. . . . . . g.23200
cttctttgtttttttaaatattatgctgctttaacagtggagctgaattttctggaaaat c.*2340
. . . . . . g.23260
gcttcttggctggggccactacctcctttcctatctttacatctatgtgtatgttgactt c.*2400
. . . . . . g.23320
tttaaaattctgagtgatccagggtatgacctagggaatgaactagctatgaaatactca c.*2460
. . . . . . g.23380
gggttaggaatcctagcacttgtctcaggactctgaaaaggaacggcttcctcattcctt c.*2520
. . . . . . g.23440
gtcttgataaagtggaattggcaaactagaatttagtttgtactcagtggacagtgctgt c.*2580
. . . . . . g.23500
tgaagatttgaggacttgttaaagagcactgggtcatatggaaaaaatgtatgtgtctcc c.*2640
. . . . . . g.23560
caggtgcatttcttggtttatgtcttgttcttgagattttgtatatttaggaaaacctca c.*2700
. . . . . . g.23620
agcagtaattaatatctcctggaacactatagagaaccaagtgaccgactcatttacaac c.*2760
. . . . . . g.23680
tgaaacctaggaagcccctgagtcctgagcgaaaacaggagagttagtcgccctacagaa c.*2820
. . . . . . g.23740
aacccagctagactattgggtatgaactaaaaagagactgtgccatggtgagaaaaatgt c.*2880
. . . . . . g.23800
aaaatcctacagtgaaatgagcagcccttacagtattgttaccaccaagggcaggtaggt c.*2940
. . . . . . g.23860
attagtgtttgaaaaagctggtctttgagcgagggcataaatacagctagccccaggggt c.*3000
. . . . . . g.23920
ggaacaactctgggagtcttgggtactcgcacctcttggctttgttgatgctccgccagg c.*3060
. . . . . . g.23980
aaggccacttgtgtgtgcgtgtcagttacttttttagtaacaattcagatccagtgtaaa c.*3120
. . . . . . g.24040
cttccgttcattgctctccagtcacatgcccccacttccccacaggtgaaagtttttctg c.*3180
. . . . . . g.24100
aaagtgttgggattggttaaggtctttatttgtattacgtatctcccgaagtcctctgtg c.*3240
. . . . . . g.24160
gccagctgcatctgtctgaatggtgcgtgaaggctctcagaccttacacaccattttgta c.*3300
. . . . . . g.24220
agttatgttttacatgccccgtttttgagactgatctcgatgcaggtggatctccttgag c.*3360
. . . . . . g.24280
atcctgatagcctgttacaggaatgaagtaaaggtcagtttttttttgtattgattttca c.*3420
. . . . . . g.24340
cagctttgaggaacatgcataagaaatgtagctgaagtagaggggacgtgagagaagggc c.*3480
. . . . . . g.24400
caggccggcaggccaaccctcctccaatggaaattcccgtgttgcttcaaactgagacag c.*3540
. . . . . . g.24460
atgggacttaacaggcaatggggtccacttccccctcttcagcatcccccgtaccccact c.*3600
. . . . . . g.24520
ttctgctgaaagaactgccagcaggtaggaccccagaggcccccaaatgaaagcttgaat c.*3660
. . . . . . g.24580
ttcccctactggctctgcgttttgctgagatctgtaggaaaggatgcttcacaaactgag c.*3720
. . . . . . g.24640
gtagataatgctatgctgtcgttggtatacatcatgaatttttatgtaaattgctctgca c.*3780
. . . . . . g.24700
aagcaaattgatatgtttgataaatttatgtttttaggtaaataaaaacttttaaaaatt c.*3840
g.24705
tgtta c.*3845
(downstream sequence)
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