(used for variant description)
(last modified March 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_002389.4 in the CD46 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering CD46 transcript NM_002389.4.
(upstream sequence)
. . . . . g.5055
cacttccgccccgggcgcggctcgggccacgcccacctgtcctgcagcactggat c.-121
. . . . . . g.5115
gctttgtgagttggggattgttgcgtcccatatctggacccagaagggacttccctgctc c.-61
. . . . . . g.5175
ggctggctctcggtttctctgctttcctccggagaaataacagcgtcttccgcgccgcgc c.-1
. . . . . . g.5235
ATGGAGCCTCCCGGCCGCCGCGAGTGTCCCTTTCCTTCCTGGCGCTTTCCTGGGTTGCTT c.60
M E P P G R R E C P F P S W R F P G L L p.20
. . . | 02. . . g.9999
CTGGCGGCCATGGTGTTGCTGCTGTACTCCTTCTCCG | ATGCCTGTGAGGAGCCACCAACA c.120
L A A M V L L L Y S F S D | A C E E P P T p.40
. . . . . . g.10059
TTTGAAGCTATGGAGCTCATTGGTAAACCAAAACCCTACTATGAGATTGGTGAACGAGTA c.180
F E A M E L I G K P K P Y Y E I G E R V p.60
. . . . . . g.10119
GATTATAAGTGTAAAAAAGGATACTTCTATATACCTCCTCTTGCCACCCATACTATTTGT c.240
D Y K C K K G Y F Y I P P L A T H T I C p.80
. . . . | 03 . . g.10516
GATCGGAATCATACATGGCTACCTGTCTCAGATGACGCCTGTTATA | GAGAAACATGTCCA c.300
D R N H T W L P V S D D A C Y R | E T C P p.100
. . . . . . g.10576
TATATACGGGATCCTTTAAATGGCCAAGCAGTCCCTGCAAATGGGACTTACGAGTTTGGT c.360
Y I R D P L N G Q A V P A N G T Y E F G p.120
. . | 04 . . . g.12632
TATCAGATGCACTTTATTTGTAATGAGGG | TTATTACTTAATTGGTGAAGAAATTCTATAT c.420
Y Q M H F I C N E G | Y Y L I G E E I L Y p.140
. . . . . | 05 . g.14216
TGTGAACTTAAAGGATCAGTAGCAATTTGGAGCGGTAAGCCCCCAATATGTGAAA | AGGTT c.480
C E L K G S V A I W S G K P P I C E K | V p.160
. . . . . . g.14276
TTGTGTACACCACCTCCAAAAATAAAAAATGGAAAACACACCTTTAGTGAAGTAGAAGTA c.540
L C T P P P K I K N G K H T F S E V E V p.180
. . . . . . g.14336
TTTGAGTATCTTGATGCAGTAACTTATAGTTGTGATCCTGCACCTGGACCAGATCCATTT c.600
F E Y L D A V T Y S C D P A P G P D P F p.200
. . . . . . g.14396
TCACTTATTGGAGAGAGCACGATTTATTGTGGTGACAATTCAGTGTGGAGTCGTGCTGCT c.660
S L I G E S T I Y C G D N S V W S R A A p.220
. | 06 . . . . . g.20022
CCAGAGTGTAAAG | TGGTCAAATGTCGATTTCCAGTAGTCGAAAATGGAAAACAGATATCA c.720
P E C K V | V K C R F P V V E N G K Q I S p.240
. . . . . . g.20082
GGATTTGGAAAAAAATTTTACTACAAAGCAACAGTTATGTTTGAATGCGATAAGGGTTTT c.780
G F G K K F Y Y K A T V M F E C D K G F p.260
. . . . . . g.20142
TACCTCGATGGCAGCGACACAATTGTCTGTGACAGTAACAGTACTTGGGATCCCCCAGTT c.840
Y L D G S D T I V C D S N S T W D P P V p.280
. | 07 . . . . . g.20613
CCAAAGTGTCTTAAAG | TGCTGCCTCCATCTAGTACAAAACCTCCAGCTTTGAGTCATTCA c.900
P K C L K V | L P P S S T K P P A L S H S p.300
| 08 . . . . | 09 . . g.23297
G | TGTCGACTTCTTCCACTACAAAATCTCCAGCGTCCAGTGCCTCAG | GTCCTAGGCCTACT c.960
V | S T S S T T K S P A S S A S G | P R P T p.320
. . | 10 . . . g.36286
TACAAGCCTCCAGTCTCAAATTATCCAG | GATATCCTAAACCTGAGGAAGGAATACTTGAC c.1020
Y K P P V S N Y P G | Y P K P E E G I L D p.340
| 11. . . . | 12 . . g.38598
AGTTTGG | ATGTTTGGGTCATTGCTGTGATTGTTATTGCCATAG | TTGTTGGAGTTGCAGTA c.1080
S L D | V W V I A V I V I A I V | V G V A V p.360
. . . . | 13. . g.43228
ATTTGTGTTGTCCCGTACAGATATCTTCAAAGGAGGAAGAAGAAAGG | CACATACCTAACT c.1140
I C V V P Y R Y L Q R R K K K G | T Y L T p.380
. . . g.43267
GATGAGACCCACAGAGAAGTAAAATTTACTTCTCTCTGA c.1179
D E T H R E V K F T S L X p.392
. . . . | 14 . . g.46500
gaaggagagatgagagaaaggtttgcttttatcattaaaag | gaaagcagatggtggagct c.*60
. . . . . . g.46560
gaatatgccacttaccagactaaatcaaccactccagcagagcagagaggctgaatagat c.*120
. . . . . . g.46620
tccacaacctggtttgccagttcatcttttgactctattaaaatcttcaatagttgttat c.*180
. . . . . . g.46680
tctgtagtttcactctcatgagtgcaactgtggcttagctaatattgcaatgtggcttga c.*240
. . . . . . g.46740
atgtaggtagcatcctttgatgcttctttgaaacttgtatgaatttgggtatgaacagat c.*300
. . . . . . g.46800
tgcctgctttcccttaaataacacttagatttattggaccagtcagcacagcatgcctgg c.*360
. . . . . . g.46860
ttgtattaaagcagggatatgctgtattttataaaattggcaaaattagagaaatatagt c.*420
. . . . . . g.46920
tcacaatgaaattatattttctttgtaaagaaagtggcttgaaatcttttttgttcaaag c.*480
. . . . . . g.46980
attaatgccaactcttaagattattctttcaccaactatagaatgtattttatatatcgt c.*540
. . . . . . g.47040
tcattgtaaaaagcccttaaaaatatgtgtatactactttggctcttgtgcataaaaaca c.*600
. . . . . . g.47100
agaacactgaaaattgggaatatgcacaaacttggcttctttaaccaagaatattattgg c.*660
. . . . . . g.47160
aaaattctctaaaagttaatagggtaaattctctattttttgtaatgtgttcggtgattt c.*720
. . . . . . g.47220
cagaaagctagaaagtgtatgtgtggcatttgttttcactttttaaaacatccctaactg c.*780
. . . . . . g.47280
atcgaatatatcagtaatttcagaatcagatgcatcctttcataagaagtgagaggactc c.*840
. . . . . . g.47340
tgacagccataacaggagtgccacttcatggtgcgaagtgaacactgtagtcttgttgtt c.*900
. . . . . . g.47400
ttcccaaagagaactccgtatgttctcttaggttgagtaacccactctgaattctggtta c.*960
. . . . . . g.47460
catgtgtttttctctccctccttaaataaagagaggggttaaacatgccctctaaaagta c.*1020
. . . . . . g.47520
ggtggttttgaagagaataaattcatcagataacctcaagtcacatgagaatcttagtcc c.*1080
. . . . . . g.47580
atttacattgccttggctagtaaaagccatctatgtatatgtcttacctcatctcctaaa c.*1140
. . . . . . g.47640
aggcagagtacaaagtaagccatgtatctcaggaaggtaacttcattttgtctatttgct c.*1200
. . . . . . g.47700
gttgattgtaccaagggatggaagaagtaaatatagctcaggtagcactttatactcagg c.*1260
. . . . . . g.47760
cagatctcagccctctactgagtcccttagccaagcagtttctttcaaagaagccagcag c.*1320
. . . . . . g.47820
gcgaaaagcagggactgccactgcatttcatatcacactgttaaaagttgtgttttgaaa c.*1380
. . . . . . g.47880
ttttatgtttagttgcacaaattgggccaaagaaacattgccttgaggaagatatgattg c.*1440
. . . . . . g.47940
gaaaatcaagagtgtagaagaataaatactgttttactgtccaaagacatgtttatagtg c.*1500
. . . . . . g.48000
ctctgtaaatgttcctttcctttgtagtctctggcaagatgctttaggaagataaaagtt c.*1560
. . . . . . g.48060
tgaggagaacaaacaggaattctgaattaagcacagagttgaagtttatacccgtttcac c.*1620
. . . . . . g.48120
atgcttttcaagaatgtcgcaattactaagaagcagataatggtgttttttagaaaccta c.*1680
. . . . . . g.48180
attgaagtatattcaaccaaatactttaatgtataaaataaatattatacaatatacttg c.*1740
. . . . . . g.48240
tatagcagtttctgcttcacatttgattttttcaaatttaatatttatattagagatcta c.*1800
. . . . . . g.48300
tatatgtataaatatgtattttgtcaaatttgttacttaaatatatagagaccagttttc c.*1860
. . . . . . g.48360
tctggaagtttgtttaaatgacagaagcgtatatgaattcaagaaaatttaagctgcaaa c.*1920
. . . . . . g.48420
aatgtatttgctataaaatgagaagtctcactgatagaggttctttattgctcatttttt c.*1980
. . . . . g.48479
aaaaaatggactcttgaaatctgttaaaataaaattgtacatttggagatgtttcatga c.*2039
(downstream sequence)
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