(used for variant description)
(last modified October 5, 2014)
This file was created to facilitate the description of sequence variants in the FANCL gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007418.1, covering FANCL transcript NM_018062.3.
(upstream sequence)
g.5006
agcggac c.-61
. . . . . . g.5066
tgcgcatgtgcaggacccagcaggtctagagcttttctgtgtttctccggacttcgagcc c.-1
. . . . . . g.5126
ATGGCGGTGACGGAAGCGAGCCTGTTGCGCCAGTGCCCCCTGCTTCTGCCCCAGAACCGG c.60
M A V T E A S L L R Q C P L L L P Q N R p.20
. . . | 02 . . . g.14291
TCGAAAACCGTGTATGAGGGATTCATCTCGGCTCAG | GGAAGAGACTTCCACCTTAGGATA c.120
S K T V Y E G F I S A Q | G R D F H L R I p.40
. . . | 03 . . . g.16530
GTGTTGCCTGAAGATTTACAACTGAAGAATGCAAG | ATTATTATGTAGTTGGCAGCTGAGA c.180
V L P E D L Q L K N A R | L L C S W Q L R p.60
. . . | 04 . . . g.19619
ACAATACTTAGTGGATACCATCGAATAGTACAACAG | AGAATGCAGCACTCTCCTGATCTA c.240
T I L S G Y H R I V Q Q | R M Q H S P D L p.80
. . . | 05 . . . g.24364
ATGAGCTTTATGATGGAGTTGAAGATGCTTTTG | GAAGTTGCCTTAAAGAATAGACAAGAG c.300
M S F M M E L K M L L | E V A L K N R Q E p.100
. . . . . . g.24424
CTGTATGCACTACCTCCTCCTCCCCAGTTCTACTCAAGCCTTATTGAAGAGATAGGAACT c.360
L Y A L P P P P Q F Y S S L I E E I G T p.120
. | 06 . . . . . g.42199
CTTGGTTGGGATAA | ACTTGTGTATGCGGATACCTGCTTCAGTACCATCAAGTTAAAAGCA c.420
L G W D K | L V Y A D T C F S T I K L K A p.140
. . . . . | 07 . g.47726
GAAGATGCTTCTGGTAGAGAGCATTTAATCACTCTCAAGTTGAAGGCAAAG | TATCCTGCA c.480
E D A S G R E H L I T L K L K A K | Y P A p.160
. . . . . . g.47786
GAATCACCAGATTATTTTGTGGATTTTCCTGTTCCATTTTGTGCCTCCTGGACACCTCAG c.540
E S P D Y F V D F P V P F C A S W T P Q p.180
| 08 . . . . . . g.80565
| AGCTCCTTAATAAGCATTTATAGTCAGTTTTTGGCAGCAATAGAATCACTAAAGGCATTC c.600
| S S L I S I Y S Q F L A A I E S L K A F p.200
. . . . . . g.80625
TGGGATGTTATGGATGAAATCGATGAGAAGACCTGGGTACTTGAGCCAGAAAAACCTCCA c.660
W D V M D E I D E K T W V L E P E K P P p.220
. . . | 09 . . . g.82891
CGGAGTGCAACAGCACGCAGAATTGCATTAG | GTAATAATGTTTCCATAAATATAGAGGTA c.720
R S A T A R R I A L G | N N V S I N I E V p.240
. . . . . | 10 . g.83310
GACCCCAGGCATCCTACTATGCTTCCTGAGTGCTTCTTTCTTGGAGCTGACCATG | TGGTA c.780
D P R H P T M L P E C F F L G A D H V | V p.260
. . . . | 11 . . g.83451
AAACCCCTGGGAATTAAGCTGAGCAGGAACATACATTTGTG | GGATCCAGAAAATAGTGTG c.840
K P L G I K L S R N I H L W | D P E N S V p.280
. . . . . . g.83511
TTACAAAATTTGAAAGATGTTTTAGAAATTGATTTTCCAGCTCGTGCTATCCTGGAAAAA c.900
L Q N L K D V L E I D F P A R A I L E K p.300
| 12 . . . . . . g.84798
TCT | GATTTTACTATGGATTGTGGAATTTGTTATGCTTATCAACTTGACGGTACCATTCCT c.960
S | D F T M D C G I C Y A Y Q L D G T I P p.320
. . . . . . g.84858
GATCAAGTGTGTGATAATTCTCAGTGTGGACAACCTTTCCATCAAATATGCTTATATGAG c.1020
D Q V C D N S Q C G Q P F H Q I C L Y E p.340
| 13 . . . . . . g.86260
| TGGCTGAGAGGACTACTAACTAGTAGACAGAGTTTTAACATCATATTTGGTGAATGTCCA c.1080
| W L R G L L T S R Q S F N I I F G E C P p.360
. | 14 . . . g.86627
TATTGTAGTAAG | CCAATTACCTTAAAAATGTCTGGAAGGAAACACTGA c.1128
Y C S K | P I T L K M S G R K H X p.375
. . . . . . g.86687
aataagaatacaacatttcggtgaagagctggaaacttaaaaaattatcaaaaggaattt c.*60
. . . . . . g.86747
tggtatcatcttcagagaaaaaataaagcaagaaatactaacatcaaaaggacaggtatg c.*120
. . . . . . g.86807
atgatgcgataataataaacatctgcgtttgtctcttcactaagagtaaactgggaaatt c.*180
. . . . . . g.86867
gtaggccaaagtccagttgaactttctaagtctgtgatccccgtgctgactgtggaagtg c.*240
. . . . . . g.86927
tatttataccaagatggagatcttgacttcttgaatatatctggactggtaaaatcttga c.*300
. . . . . . g.86987
tgaggctcataaaatgagtttgggaattgtgtatagctgattttttgtgggaaactgttt c.*360
. . . . . . g.87047
acttcattcaaaggttcttgagactcttgatatttctgtcttctccttgtgctttcctat c.*420
. . . . . . g.87107
ggaaaaaatacatatatagtttagtttgttagacgtgagttatccaagtatttattttgt c.*480
. . . . g.87149
gtagtgtgtaagaatgctaaataaaatgttatacaagatcaa c.*522
(downstream sequence)
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