(used for variant description)
(last modified September 4, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_020741.2 in the KIAA1257 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering KIAA1257 transcript NM_020741.2.
(upstream sequence)
. g.5016
agcaaccgccaaacgt c.-181
. . . . . . g.5076
agctgagtggctgggcctgcggccctccctgcaccggcggacgctcctctcagtcttgga c.-121
. . . . . . g.5136
gtctcttcgcccaggtggctgtggatccggtacgggagttgccgccgcggtccaactccc c.-61
. . . | 02. . . g.5839
cgctgccgcccagcgcatccgctcgcag | gagcgccggcggccagcagtgcgctctgcagc c.-1
. . . . . . g.5899
ATGTCGCTACATGCCTGGGAGTGGGAAGAGGACCCCGCAAGCATAGAGCCCATCTCCTCC c.60
M S L H A W E W E E D P A S I E P I S S p.20
. . . . . . g.5959
ATCACTAGCTTTTACCAGTCCACGAGCGAGTGTGACGTGGAGGAACACCTGAAGGCCAAG c.120
I T S F Y Q S T S E C D V E E H L K A K p.40
. . . . . . g.6019
GCCAGGGCCCAGGAGTCTGACTCTGACCGCCCGTGCAGCAGCATCGAGTCCTCATCTGAG c.180
A R A Q E S D S D R P C S S I E S S S E p.60
. . . . . . g.6079
CCTGCCAGCACTTTCAGCTCCGACGTGCCCCACGTGGTCCCCTGCAAATTCACCATCTCA c.240
P A S T F S S D V P H V V P C K F T I S p.80
. . | 03 . . . . g.10263
CTGGCCTTCCCTGTGAATATGG | GTCAGAAGGGAAAATATGCAAGTTTGATTGAAAAATAT c.300
L A F P V N M G | Q K G K Y A S L I E K Y p.100
. . . . . . g.10323
AAGAAACACCCTAAAACAGACAGTTCTGTTACAAAGATGCGTCGTTTTTACCACATTGAG c.360
K K H P K T D S S V T K M R R F Y H I E p.120
. . . . . . g.10383
TATTTCCTTCTGCCGGACGATGAAGAACCTAAAAAAGTTGACATATTGCTATTTCCAATG c.420
Y F L L P D D E E P K K V D I L L F P M p.140
. . . | 04 . . . g.11341
GTGGCCAAAGTATTCCTGGAGTCAGGAGTAAAG | ACTGTGAAGCCGTGGCACGAAGGTGAC c.480
V A K V F L E S G V K | T V K P W H E G D p.160
. . . . . . g.11401
AAAGCCTGGGTGTCGTGGGAGCAGACTTTTAATATCACTGTGACAAAGGAATTATTAAAG c.540
K A W V S W E Q T F N I T V T K E L L K p.180
. . . . . . g.11461
AAAATAAATTTCCACAAAATCACCTTGAGGCTCTGGAACACTAAAGACAAGATGTCAAGA c.600
K I N F H K I T L R L W N T K D K M S R p.200
. . . . . . g.11521
AAAGTCAGATATTACCGATTAAAGACTGCCGGCTTCACAGACGACGTGGGAGCTTTTCAT c.660
K V R Y Y R L K T A G F T D D V G A F H p.220
| 05. . . . . . g.21011
AAGTCAG | AAGTGAGACATTTGGTTTTAAATCAGAGAAAATTATCTGAACAGGGCATTGAG c.720
K S E | V R H L V L N Q R K L S E Q G I E p.240
. . . . . . g.21071
AATACCAACATTGTCAGAGAAGAGTCGAACCAGGAACATCCGCCAGGAAAACAAGAAAAA c.780
N T N I V R E E S N Q E H P P G K Q E K p.260
. . | 06 . . . g.22109
ACAGAAAAACACCCAAAGTCTTTGCAAG | GTTCTCACCAAGCAGAGCCCGAAACTTCTTCC c.840
T E K H P K S L Q G | S H Q A E P E T S S p.280
. . . . . | 07 . g.23244
AAGAACAGTGAGGAATATGAGAAGTCCCTCAAAATGGACGATTCTTCCACGATTCA | ATGG c.900
K N S E E Y E K S L K M D D S S T I Q | W p.300
. . . . . . g.23304
AGTGTTTCAAGAACACCAACCATTTCTTTGGCAGGAGCAAGCATGATGGAGATCAAGGAA c.960
S V S R T P T I S L A G A S M M E I K E p.320
. . . . . . g.23364
TTAATTGAGAGTGAATCACTTAGCAGCTTAACAAACATATTAGACAGACAAAGGTCTCAA c.1020
L I E S E S L S S L T N I L D R Q R S Q p.340
| 08 . . . . . . g.27769
A | TTAAAGGGAAAGATTCAGAGGGAAGAAGGAAAATCCAGAGGAGACATAAGAAGCCCCTG c.1080
I | K G K D S E G R R K I Q R R H K K P L p.360
. . . . . . g.27829
GCAGAAGAAGAGGCAGACCCCACGCTGACAGGCCCCAGGAAGCAGAGCGCTTTCTCCATC c.1140
A E E E A D P T L T G P R K Q S A F S I p.380
. . . . . . g.27889
CAGCTGGCCGTCATGCCGCTCCTTGCCGGTACCCACTGCTTGCCCTGTTCCCAGCAGCTC c.1200
Q L A V M P L L A G T H C L P C S Q Q L p.400
. . . g.27919
CTGCTTGTCTTGTGGCCAGAACGGCCATAA c.1230
L L V L W P E R P X p.409
. . . . . . g.27979
gcggatgctcctaatgacaaccctgctgcgtgccacctcatttcatcctcacagccacct c.*60
. . . . . . g.28039
caggaaactcaggggaattggcttcatagtacagggggaaacaaaggcccagagagggta c.*120
. . . . . . g.28099
gctaccttgcctgagatcacacagctaggaaatgtgaagcctggacttgaacccagctct c.*180
. . . . . . g.28159
gtttgattccaaaatccaaggaagcctatgggaatattaaatgtcatcattgtgtttgtt c.*240
. . . . g.28208
aagaagatgctgcttttaataaatgctttcctacagatttttacaaaaa c.*289
(downstream sequence)
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