(used for variant description)
(last modified October 17, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_002185.3 in the IL7R gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering IL7R transcript NM_002185.3.
(upstream sequence)
. . . . g.5043
atctaagcttctctgtcttcctccctccctcccttcctcttac c.-61
. . . . . . g.5103
tctcattcatttcatacacactggctcacacatctactctctctctctatctctctcaga c.-1
. . . . . . g.5163
ATGACAATTCTAGGTACAACTTTTGGCATGGTTTTTTCTTTACTTCAAGTCGTTTCTGGA c.60
M T I L G T T F G M V F S L L Q V V S G p.20
. . | 02 . . . . g.9015
GAAAGTGGCTATGCTCAAAATG | GAGACTTGGAAGATGCAGAACTGGATGACTACTCATTC c.120
E S G Y A Q N G | D L E D A E L D D Y S F p.40
. . . . . . g.9075
TCATGCTATAGCCAGTTGGAAGTGAATGGATCGCAGCACTCACTGACCTGTGCTTTTGAG c.180
S C Y S Q L E V N G S Q H S L T C A F E p.60
. . . . | 03 . . g.15450
GACCCAGATGTCAACATCACCAATCTGGAATTTGAAATATG | TGGGGCCCTCGTGGAGGTA c.240
D P D V N I T N L E F E I C | G A L V E V p.80
. . . . . . g.15510
AAGTGCCTGAATTTCAGGAAACTACAAGAGATATATTTCATCGAGACAAAGAAATTCTTA c.300
K C L N F R K L Q E I Y F I E T K K F L p.100
. . . . . . g.15570
CTGATTGGAAAGAGCAATATATGTGTGAAGGTTGGAGAAAAGAGTCTAACCTGCAAAAAA c.360
L I G K S N I C V K V G E K S L T C K K p.120
. | 04 . . . . g.19222
ATAGACCTAACCACTATAG | TTAAACCTGAGGCTCCTTTTGACCTGAGTGTCGTCTATCGG c.420
I D L T T I V | K P E A P F D L S V V Y R p.140
. . . . . . g.19282
GAAGGAGCCAATGACTTTGTGGTGACATTTAATACATCACACTTGCAAAAGAAGTATGTA c.480
E G A N D F V V T F N T S H L Q K K Y V p.160
. . . . . | 05. g.21608
AAAGTTTTAATGCACGATGTAGCTTACCGCCAGGAAAAGGATGAAAACAAATGGACG | CAT c.540
K V L M H D V A Y R Q E K D E N K W T | H p.180
. . . . . . g.21668
GTGAATTTATCCAGCACAAAGCTGACACTCCTGCAGAGAAAGCTCCAACCGGCAGCAATG c.600
V N L S S T K L T L L Q R K L Q P A A M p.200
. . . . . . g.21728
TATGAGATTAAAGTTCGATCCATCCCTGATCACTATTTTAAAGGCTTCTGGAGTGAATGG c.660
Y E I K V R S I P D H Y F K G F W S E W p.220
. . . . | 06 . . g.22588
AGTCCAAGTTATTACTTCAGAACTCCAGAGATCAATAATAGCTCAG | GGGAGATGGATCCT c.720
S P S Y Y F R T P E I N N S S G | E M D P p.240
. . . . . . g.22648
ATCTTACTAACCATCAGCATTTTGAGTTTTTTCTCTGTCGCTCTGTTGGTCATCTTGGCC c.780
I L L T I S I L S F F S V A L L V I L A p.260
. . | 07 . . . . g.23677
TGTGTGTTATGGAAAAAAAG | GATTAAGCCTATCGTATGGCCCAGTCTCCCCGATCATAAG c.840
C V L W K K R | I K P I V W P S L P D H K p.280
. . . | 08 . . . g.24132
AAGACTCTGGAACATCTTTGTAAGAAACCAAGAAAA | AATTTAAATGTGAGTTTCAATCCT c.900
K T L E H L C K K P R K | N L N V S F N P p.300
. . . . . . g.24192
GAAAGTTTCCTGGACTGCCAGATTCATAGGGTGGATGACATTCAAGCTAGAGATGAAGTG c.960
E S F L D C Q I H R V D D I Q A R D E V p.320
. . . . . . g.24252
GAAGGTTTTCTGCAAGATACGTTTCCTCAGCAACTAGAAGAATCTGAGAAGCAGAGGCTT c.1020
E G F L Q D T F P Q Q L E E S E K Q R L p.340
. . . . . . g.24312
GGAGGGGATGTGCAGAGCCCCAACTGCCCATCTGAGGATGTAGTCATCACTCCAGAAAGC c.1080
G G D V Q S P N C P S E D V V I T P E S p.360
. . . . . . g.24372
TTTGGAAGAGATTCATCCCTCACATGCCTGGCTGGGAATGTCAGTGCATGTGACGCCCCT c.1140
F G R D S S L T C L A G N V S A C D A P p.380
. . . . . . g.24432
ATTCTCTCCTCTTCCAGGTCCCTAGACTGCAGGGAGAGTGGCAAGAATGGGCCTCATGTG c.1200
I L S S S R S L D C R E S G K N G P H V p.400
. . . . . . g.24492
TACCAGGACCTCCTGCTTAGCCTTGGGACTACAAACAGCACGCTGCCCCCTCCATTTTCT c.1260
Y Q D L L L S L G T T N S T L P P P F S p.420
. . . . . . g.24552
CTCCAATCTGGAATCCTGACATTGAACCCAGTTGCTCAGGGTCAGCCCATTCTTACTTCC c.1320
L Q S G I L T L N P V A Q G Q P I L T S p.440
. . . . . . g.24612
CTGGGATCAAATCAAGAAGAAGCATATGTCACCATGTCCAGCTTCTACCAAAACCAGTGA c.1380
L G S N Q E E A Y V T M S S F Y Q N Q X p.459
. . . . . . g.24672
agtgtaagaaacccagactgaacttaccgtgagcgacaaagatgatttaaaagggaagtc c.*60
. . . . . . g.24732
tagagttcctagtctccctcacagcacagagaagacaaaattagcaaaaccccactacac c.*120
. . . . . . g.24792
agtctgcaagattctgaaacattgctttgaccactcttcctgagttcagtggcactcaac c.*180
. . . . . . g.24852
atgagtcaagagcatcctgcttctaccatgtggatttggtcacaaggtttaaggtgaccc c.*240
. . . . . . g.24912
aatgattcagctatttaaaaaaaaaagaggaaagaatgaaagagtaaaggaaatgattga c.*300
. . . . . . g.24972
ggagtgaggaaggcaggaagagagcatgagaggaaagaaagaaaggaaaataaaaaatga c.*360
. . . . . . g.25032
tagttgccattattaggatttaatatatatccagtgctttgcaagtgctctgcgcacctt c.*420
. . . . . . g.25092
gtctcactccatcctgacaataatcctgggaggtgtgtgcaattactacgactactctct c.*480
. . . . . . g.25152
tttttatagatcattaaattcagaactaaggagttaagtaacttgtccaagttgttcaca c.*540
. . . . . . g.25212
cagtgaagggaggggccaagatatgatggctgggagtctaattgcagttccctgagccat c.*600
. . . . . . g.25272
gtgcctttctcttcactgaggactgccccattcttgagtgccaaacgtcactagtaacag c.*660
. . . . . . g.25332
ggtgtgcctagataatttatgatccaaactgagtcagtttggaaagtgaaagggaaactt c.*720
. . . . . . g.25392
acatataatccctccgggacaatgagcaaaaactaggactgtccccagacaaatgtgaac c.*780
. . . . . . g.25452
atacatatcatcacttaaattaaaatggctatgagaaagaaagagggggagaaacagtct c.*840
. . . . . . g.25512
tgcgggtgtgaagtcccatgaccagccatgtcaaaagaaggtaaagaagtcaagaaaaag c.*900
. . . . . . g.25572
ccatgaagcccatttggtttcatttttctgaaaataggctcaagagggaataaattagaa c.*960
. . . . . . g.25632
actcacaatttctcttgtttgttaccaagacagtgattctcttgctgctaccacccaact c.*1020
. . . . . . g.25692
gcatccgtccatgatctcagaggaaactgtcgctgaccctggacatgggtacgtttgacg c.*1080
. . . . . . g.25752
agtgagaggaggcatgacccctcccatgtgtatagacactaccccaacctaaattcatcc c.*1140
. . . . . . g.25812
ctaaattgtcccaagttctccagcaatagaggctgccacaaacttcagggagaaagagtt c.*1200
. . . . . . g.25872
acaagtacatgcaatgagtgaactgactgtggctacaatcttgaagatatacggaagaga c.*1260
. . . . . . g.25932
cgtattattaatgcttgacatatatcatcttgcctttcttggtctagactgacttctaat c.*1320
. . . . . . g.25992
gactaactcaaagtcaaggcaactgagtaatgtcagctcagcaaagtgcagcaaacccat c.*1380
. . . . . . g.26052
ctcccacaggcctccaaaccctggctgttcacagaaccacaaagggcagatgctgcacag c.*1440
. . . . . . g.26112
aaaactagagaaggggtcataggttcatggttttgtttgagatttgttgctactgttttt c.*1500
. . . . . . g.26172
ctgttttgaattttcttctttgttctgtttttactttatttagggggactaggtgtttct c.*1560
. . . . . . g.26232
gatattttagttttcttgtttgttttgttttgtgttgtctgtgaatggggttttaactgt c.*1620
. . . . . . g.26292
ggatgaatggaccttatctgttggcttaaaggactggtaagatcagaccatcttattctt c.*1680
. . . . . . g.26352
caggtgaatgttttactttccaaagtgctctcctctgcaccagcagtaataaatacaatg c.*1740
. . . . . . g.26412
ccataatcccttaggtttgcctagtgcttttgcaattttcaaagcacttccataagcatt c.*1800
. . . . . . g.26472
ccttccacctccttgataggcatttatggaaagcctgctacatgtcaatcatactgttag c.*1860
. . . . . . g.26532
gcacaggggacctaaagacacataaaaggatggcattctgcctcataaattgcaaaacct c.*1920
. . . . . . g.26592
aatgaaagtgactgcttggtaaacaaattattattatattataaaatgctataaaagagc c.*1980
. . . . . . g.26652
catattgaaagtgccctgttggagacagggcaaatgccacaaaaatgatgtaaatttaca c.*2040
. . . . . . g.26712
tggaggaaaagtagaatctgcctggtttgtaggcagcagaagacatttttcatcagtggg c.*2100
. . . . . . g.26772
caggtgttctttaccttttgtagaaatgggagtcaagtctcaaataggaggctccacaaa c.*2160
. . . . . . g.26832
atctcatgccaggtctctgataccttattcacagaagttctttgaagtatttattgttat c.*2220
. . . . . . g.26892
tttctttgacttatgggaaaactgggacacaggaagacaggtaaattacccaacctcaca c.*2280
. . . . . . g.26952
cgttaagtcagaactgggagccataattttgtatccctggtataaatagacaatctcttg c.*2340
. . . . . . g.27012
aagaaatgaagagatgaccatagaaaaacatcgagatatctccagctctaaaatcctttg c.*2400
. . . . . . g.27072
tttcaatgttgtttggcatatgttatctttggaatttagtgtctgagcctctgtctgtta c.*2460
. . . . . . g.27132
ctgtagtatttaaaatgcatgtattataatcatataatcataactgctgttaattcttga c.*2520
. . . . . . g.27192
ttatatacctagggacaatgtgtaatgtaagattactaattggttctgcccaatctcctt c.*2580
. . . . . . g.27252
tcagattttattaggaaaaaaaaataaacctcctgatcggagacaatgtattaatcagaa c.*2640
. . . . . . g.27312
gtgtaaactgccagttctatatagcatgaaatgaaaagacagctaatttggtccaacaaa c.*2700
. . . . . . g.27372
catgactgggtctagggcacccaggctgattcagctgatttcctaccagcctttgcctct c.*2760
. . . . . . g.27432
tccttcaatgtggtttccatgggaatttgcttcagaaaagccaagtatgggctgttcaga c.*2820
. . . . . . g.27492
ggtgcacacctgcattttcttagctcttctagaggggctaagagacttggtacgggccag c.*2880
. . . . . . g.27552
gaagaatatgtggcagagctcctggaaatgatgcagattaggtggcatttttgtcagctc c.*2940
. . . . . . g.27612
tgtggtttattgttgggactattctttaaaatatccattgttcactacagtgaagatctc c.*3000
. . . . . . g.27672
tgatttaaccgtgtactatccacatgcattacaaacatttcgcagagctgcttagtatat c.*3060
. . . . . g.27729
aagcgtacaatgtatgtaataaccatctcatatttaattaaatggtatagaagaaca c.*3117
(downstream sequence)
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