(used for variant description)
(last modified October 9, 2014)
This file was created to facilitate the description of sequence variants in the PALB2 (FANCN) gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007406.1 (identical to LRG_308), covering FANCD2 transcript NM_024675.3.
(upstream sequence)
. . g.5020
gcaggccgaatggtggattt c.-181
. . . . . . g.5080
aattggccggagtttagggcgcgcttggcccgcgtgggtcagctgatcgcgcactgaggg c.-121
. . . . . . g.5140
tgcgatcccgggctccccattccttcctggggcgcctccccggcccagggccaactgggt c.-61
. . . . . . g.5200
cccggtgtcggcaggcctggggtcggcgacggctgctcttttcgttctgtcgcctgcccg c.-1
. . . . | 02 . g.8240
ATGGACGAGCCTCCCGGGAAGCCCCTCAGCTGTGAGGAGAAGGAAAAG | TTAAAGGAGAAA c.60
M D E P P G K P L S C E E K E K | L K E K p.20
. . . . | 03 . g.8417
TTAGCATTCTTGAAAAGGGAATACAGCAAGACACTAGCCCGCCTTCAG | CGTGCCCAAAGA c.120
L A F L K R E Y S K T L A R L Q | R A Q R p.40
. . . . . . g.8477
GCTGAAAAGATTAAGCATTCTATTAAGAAAACAGTAGAAGAACAAGATTGTTTGTCTCAG c.180
A E K I K H S I K K T V E E Q D C L S Q p.60
. . . | 04 . . . g.10052
CAGGATCTCTCACCGCAGCTAAAACACTCAG | AACCTAAAAATAAAATATGTGTTTATGAC c.240
Q D L S P Q L K H S E | P K N K I C V Y D p.80
. . . . . . g.10112
AAGTTACACATCAAAACCCATCTTGATGAAGAAACTGGAGAAAAGACATCTATCACACTT c.300
K L H I K T H L D E E T G E K T S I T L p.100
. . . . . . g.10172
GATGTTGGGCCTGAGTCCTTTAACCCTGGAGATGGCCCAGGAGGATTACCTATACAAAGA c.360
D V G P E S F N P G D G P G G L P I Q R p.120
. . . . . . g.10232
ACAGATGACACCCAAGAACATTTTCCCCACAGGGTCAGTGACCCTAGTGGTGAGCAAAAG c.420
T D D T Q E H F P H R V S D P S G E Q K p.140
. . . . . . g.10292
CAGAAGCTGCCAAGCAGAAGAAAGAAGCAGCAGAAGAGGACATTTATTTCACAGGAGAGA c.480
Q K L P S R R K K Q Q K R T F I S Q E R p.160
. . . . . . g.10352
GACTGTGTCTTTGGCACTGATTCACTCAGATTGTCTGGGAAAAGACTAAAGGAACAGGAA c.540
D C V F G T D S L R L S G K R L K E Q E p.180
. . . . . . g.10412
GAAATCAGTAGCAAAAATCCTGCTAGATCACCAGTAACTGAAATAAGAACTCACCTTTTA c.600
E I S S K N P A R S P V T E I R T H L L p.200
. . . . . . g.10472
AGTCTTAAATCTGAACTTCCAGATTCTCCAGAACCAGTTACAGAAATTAATGAAGACAGT c.660
S L K S E L P D S P E P V T E I N E D S p.220
. . . . . . g.10532
GTATTAATTCCACCAACTGCCCAACCAGAAAAAGGTGTTGATACATTCCTAAGAAGACCT c.720
V L I P P T A Q P E K G V D T F L R R P p.240
. . . . . . g.10592
AATTTCACCAGGGCGACTACAGTTCCTTTACAGACTCTATCAGATAGCGGTAGTAGTCAG c.780
N F T R A T T V P L Q T L S D S G S S Q p.260
. . . . . . g.10652
CACCTTGAACACATTCCTCCTAAAGGTAGCAGTGAACTTACTACTCACGACCTAAAAAAC c.840
H L E H I P P K G S S E L T T H D L K N p.280
. . . . . . g.10712
ATTAGATTTACTTCACCTGTAAGTTTGGAGGCACAAGGCAAAAAAATGACTGTCTCTACA c.900
I R F T S P V S L E A Q G K K M T V S T p.300
. . . . . . g.10772
GATAACCTCCTTGTAAATAAAGCTATAAGTAAAAGTGGCCAACTGCCCACAAGTTCTAAT c.960
D N L L V N K A I S K S G Q L P T S S N p.320
. . . . . . g.10832
TTAGAGGCAAATATTTCATGTTCTCTAAATGAACTCACCTACAATAACTTACCAGCAAAT c.1020
L E A N I S C S L N E L T Y N N L P A N p.340
. . . . . . g.10892
GAAAACCAAAACTTAAAAGAACAAAATCAAACAGAGAAATCTTTAAAATCTCCCAGTGAC c.1080
E N Q N L K E Q N Q T E K S L K S P S D p.360
. . . . . . g.10952
ACTCTTGATGGCAGGAATGAAAATCTTCAGGAAAGTGAGATTCTAAGTCAACCTAAGAGT c.1140
T L D G R N E N L Q E S E I L S Q P K S p.380
. . . . . . g.11012
CTTAGCCTGGAAGCAACCTCTCCTCTTTCTGCAGAAAAACATTCTTGCACAGTGCCTGAA c.1200
L S L E A T S P L S A E K H S C T V P E p.400
. . . . . . g.11072
GGCCTTCTGTTTCCTGCAGAATATTATGTTAGAACAACACGAAGCATGTCCAATTGCCAG c.1260
G L L F P A E Y Y V R T T R S M S N C Q p.420
. . . . . . g.11132
AGGAAAGTAGCCGTGGAGGCTGTCATTCAGAGTCATTTGGATGTCAAGAAAAAAGGGTTT c.1320
R K V A V E A V I Q S H L D V K K K G F p.440
. . . . . . g.11192
AAAAATAAAAATAAGGATGCAAGTAAAAATTTAAACCTTTCCAATGAGGAAACTGACCAA c.1380
K N K N K D A S K N L N L S N E E T D Q p.460
. . . . . . g.11252
AGTGAAATTAGGATGTCTGGCACATGCACAGGACAACCAAGTTCAAGAACCTCTCAGAAA c.1440
S E I R M S G T C T G Q P S S R T S Q K p.480
. . . . . . g.11312
CTTCTCTCATTAACTAAAGTCAGCTCTCCCGCTGGGCCCACTGAAGATAATGACTTGTCT c.1500
L L S L T K V S S P A G P T E D N D L S p.500
. . . . . . g.11372
AGGAAGGCAGTTGCCCAAGCACCTGGTAGAAGATACACAGGAAAAAGAAAATCAGCCTGC c.1560
R K A V A Q A P G R R Y T G K R K S A C p.520
. . . . . . g.11432
ACCCCAGCATCAGATCATTGTGAACCACTTTTGCCAACTTCTAGCCTGTCGATTGTTAAC c.1620
T P A S D H C E P L L P T S S L S I V N p.540
. . . . . . g.11492
AGGTCCAAGGAAGAAGTCACCTCACACAAATATCAGCACGAAAAATTATTTATTCAAGTG c.1680
R S K E E V T S H K Y Q H E K L F I Q V p.560
| 05 . . . . . . g.15944
AAAG | GGAAGAAAAGTCGTCATCAAAAAGAGGATTCCCTTTCTTGGAGTAATAGTGCTTAT c.1740
K G | K K S R H Q K E D S L S W S N S A Y p.580
. . . . . . g.16004
TTATCCTTGGATGATGATGCTTTCACGGCTCCATTTCATAGGGATGGAATGCTGAGTTTA c.1800
L S L D D D A F T A P F H R D G M L S L p.600
. . . . . . g.16064
AAGCAACTACTGTCTTTTCTCAGTATCACAGACTTTCAGTTACCTGATGAAGACTTTGGA c.1860
K Q L L S F L S I T D F Q L P D E D F G p.620
. . . . . . g.16124
CCTCTTAAGCTTGAAAAAGTGAAGTCCTGCTCAGAAAAACCAGTGGAGCCCTTTGAGTCA c.1920
P L K L E K V K S C S E K P V E P F E S p.640
. . . . . . g.16184
AAAATGTTTGGAGAGAGACATCTTAAAGAGGGAAGCTGTATTTTTCCAGAGGAACTGAGT c.1980
K M F G E R H L K E G S C I F P E E L S p.660
. . . . . . g.16244
CCTAAACGCATGGATACAGAAATGGAGGACTTAGAAGAGGACCTTATTGTTCTACCAGGA c.2040
P K R M D T E M E D L E E D L I V L P G p.680
. . . . . . g.16304
AAATCACATCCCAAAAGGCCAAACTCGCAAAGCCAGCATACAAAGACGGGCCTTTCTTCA c.2100
K S H P K R P N S Q S Q H T K T G L S S p.700
. . . . . . g.16364
TCCATATTACTTTATACTCCTTTAAATACGGTTGCGCCTGATGATAATGACAGGCCTACC c.2160
S I L L Y T P L N T V A P D D N D R P T p.720
. . . . . . g.16424
ACAGACATGTGTTCACCTGCTTTCCCCATCTTAGGTACTACTCCAGCCTTTGGCCCTCAA c.2220
T D M C S P A F P I L G T T P A F G P Q p.740
. . . . . . g.16484
GGCTCCTATGAAAAAGCATCTACAGAAGTTGCTGGACGAACTTGCTGCACACCCCAACTT c.2280
G S Y E K A S T E V A G R T C C T P Q L p.760
. . . . . . g.16544
GCTCATTTGAAAGACTCAGTCTGTCTTGCCAGTGATACTAAACAATTCGACAGTTCAGGC c.2340
A H L K D S V C L A S D T K Q F D S S G p.780
. . . . . . g.16604
AGCCCAGCAAAACCACATACCACCCTGCAAGTGTCAGGCAGGCAAGGACAACCTACCTGT c.2400
S P A K P H T T L Q V S G R Q G Q P T C p.800
. . . . . . g.16664
GACTGTGACTCTGTCCCGCCAGGAACACCTCCACCCATTGAGTCATTCACTTTTAAAGAA c.2460
D C D S V P P G T P P P I E S F T F K E p.820
. . . . . | 06 . g.17088
AATCAGCTCTGTAGAAACACATGCCAGGAGCTGCATAAACATTCCGTCGAACAG | ACTGAA c.2520
N Q L C R N T C Q E L H K H S V E Q | T E p.840
. . . . . . g.17148
ACAGCAGAGCTTCCTGCTTCTGATAGCATAAACCCAGGCAACCTACAATTGGTTTCAGAG c.2580
T A E L P A S D S I N P G N L Q L V S E p.860
| 07 . . . . . . g.20014
TTAAAG | AATCCTTCAGGTTCCTGTTCCGTAGATGTGAGTGCCATGTTTTGGGAAAGAGCC c.2640
L K | N P S G S C S V D V S A M F W E R A p.880
. . . . . . g.20074
GGTTGTAAAGAGCCATGTATCATAACTGCTTGCGAAGATGTAGTTTCTCTTTGGAAAGCT c.2700
G C K E P C I I T A C E D V V S L W K A p.900
. . . . | 08 . g.22275
CTGGATGCTTGGCAGTGGGAAAAACTTTATACCTGGCACTTCGCAGAG | GTTCCAGTATTA c.2760
L D A W Q W E K L Y T W H F A E | V P V L p.920
. . . . . . g.22335
CAGATAGTTCCAGTGCCTGATGTGTATAATCTCGTGTGTGTAGCTTTGGGAAATTTGGAA c.2820
Q I V P V P D V Y N L V C V A L G N L E p.940
. | 09 . . . . . g.23273
ATCAGAGAGATCAG | GGCATTGTTTTGTTCCTCTGATGATGAAAGTGAAAAGCAAGTACTA c.2880
I R E I R | A L F C S S D D E S E K Q V L p.960
. . . . . . g.23333
CTGAAGTCTGGAAATATAAAAGCTGTGCTTGGCCTGACAAAGAGGAGGCTAGTTAGTAGC c.2940
L K S G N I K A V L G L T K R R L V S S p.980
. . . . . | 10 . g.24883
AGTGGGACCCTTTCTGATCAACAAGTAGAAGTCATGACGTTTGCAGAAGATGGAGG | AGGC c.3000
S G T L S D Q Q V E V M T F A E D G G | G p.1000
. . . . . . g.24943
AAAGAAAACCAATTTTTGATGCCCCCTGAGGAGACTATACTAACTTTTGCTGAGGTCCAA c.3060
K E N Q F L M P P E E T I L T F A E V Q p.1020
. . . . . | 11 . g.32273
GGGATGCAAGAAGCTCTGCTTGGTACTACTATTATGAACAACATTGTTATTTG | GAATTTA c.3120
G M Q E A L L G T T I M N N I V I W | N L p.1040
. . . . . . g.32333
AAAACTGGTCAACTCCTGAAAAAGATGCACATTGATGATTCTTACCAAGCTTCAGTCTGT c.3180
K T G Q L L K K M H I D D S Y Q A S V C p.1060
. . | 12 . . . . g.38384
CACAAAGCCTATTCTGAAATG | GGGCTTCTCTTTATTGTCCTGAGTCATCCCTGTGCCAAA c.3240
H K A Y S E M | G L L F I V L S H P C A K p.1080
. . . . . . g.38444
GAGAGTGAGTCGTTGCGAAGCCCTGTGTTTCAGCTCATTGTGATTAACCCTAAGACGACT c.3300
E S E S L R S P V F Q L I V I N P K T T p.1100
. . . . . | 13 . g.42698
CTCAGCGTGGGTGTGATGCTGTACTGTCTTCCTCCAGGGCAGGCTGGCAG | GTTCCTGGAA c.3360
L S V G V M L Y C L P P G Q A G R | F L E p.1120
. . . . . . g.42758
GGTGACGTGAAAGATCACTGTGCAGCAGCAATCTTGACTTCTGGAACAATTGCCATTTGG c.3420
G D V K D H C A A A I L T S G T I A I W p.1140
. . . . . . g.42818
GACTTACTTCTCGGTCAGTGTACTGCCCTCCTCCCACCTGTCTCTGACCAACATTGGTCT c.3480
D L L L G Q C T A L L P P V S D Q H W S p.1160
. . . . . . g.42878
TTTGTGAAATGGTCGGGTACAGACTCTCATTTGCTGGCTGGACAAAAAGATGGAAATATA c.3540
F V K W S G T D S H L L A G Q K D G N I p.1180
. . g.42899
TTTGTATACCACTATTCATAA c.3561
F V Y H Y S X p.1186
. . . . . . g.42959
gttagggtaaagtgaaaacacaattttctggatatattgggcctcttagtattttttgga c.*60
. . . . . . g.43019
gttttaaatataaaggagaatatctgaatgacacttaaaatgattgcttgtttatgtcca c.*120
. . . . . . g.43079
gacagacttattttttattctaatgatggtagcaccactgatcttggatgtacatttatg c.*180
. . . . . . g.43139
tatactttgagaaaaagggttttaggttgatttttgtaatttcccacatttgtacatgtg c.*240
. . . . . g.43196
cttttaaaggtgtacataaagcttcaaatggcaataaatatttatttttatacattc c.*297
(downstream sequence)
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