(used for variant description)
(last modified April 3, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_014284.2 in the NCDN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering NCDN transcript NM_014284.2.
(upstream sequence)
. . . g.5039
agccaggagtgggcaacgcggcgtgagcagcggcccgag c.-361
. . . . . . g.5099
gctcccggagcatcgcgctgggagaagacttcgccgctcggggccgcagcctggtgagct c.-301
. . . . . . g.5159
cagcccccttcgggccctcccctgcatcccagccggggcctctccgagccggcgctgatc c.-241
. . . . . . g.5219
gatgccgacacaccccggggaccctatcgcgactccatcgcgccatatcgcgacaccatc c.-181
. . . . . . g.5279
gtgccctgtcgagactccattttgtcacagcccttttcaatatatatctttttttttttt c.-121
. . . . . . g.5339
aatttgccctgtcatctttgggggctgtctcccatgtcgtgattttgacgtgatctctcc c.-61
. . . . . . g.5399
gtgacatcaccgcgccatcgtgaagtgtgatctcatcgccgccctgtcgtgacttcatca c.-1
. . . | 02 . . . g.6342
ATGTCGTGTTGTGACCTGGCTGCGGCGGGACAG | TTGGGCAAGGCGAGCATCATGGCCTCG c.60
M S C C D L A A A G Q | L G K A S I M A S p.20
. . . . . . g.6402
GATTGCGAGCCAGCTCTGAACCAGGCAGAGGGCCGAAACCCCACCCTGGAGCGCTACCTG c.120
D C E P A L N Q A E G R N P T L E R Y L p.40
. . . . . | 03 . g.7540
GGAGCCCTCCGTGAGGCCAAGAATGACAGCGAGCAGTTTGCAGCCCTGCTGCTA | GTGACC c.180
G A L R E A K N D S E Q F A A L L L | V T p.60
. . . . . . g.7600
AAGGCAGTCAAAGCAGGTGACATAGATGCCAAAACTCGGCGGCGGATCTTCGATGCTGTC c.240
K A V K A G D I D A K T R R R I F D A V p.80
. . . . . . g.7660
GGCTTCACCTTCCCCAATCGTCTCCTGACCACCAAGGAGGCGCCGGATGGCTGCCCTGAC c.300
G F T F P N R L L T T K E A P D G C P D p.100
. . . . . . g.7720
CATGTTCTGCGGGCTTTGGGTGTGGCCCTGCTGGCCTGCTTCTGCAGTGACCCTGAACTG c.360
H V L R A L G V A L L A C F C S D P E L p.120
. . . . . . g.7780
GCCGCCCATCCCCAAGTCCTGAACAAGATTCCCATTCTTAGCACCTTCCTCACAGCCCGG c.420
A A H P Q V L N K I P I L S T F L T A R p.140
. . . . . . g.7840
GGGGACCCGGACGATGCTGCCCGCCGCTCCATGATTGATGACACCTACCAGTGCCTGACG c.480
G D P D D A A R R S M I D D T Y Q C L T p.160
. . . . . . g.7900
GCTGTAGCAGGCACACCCAGAGGGCCTCGGCACCTCATTGCTGGTGGCACCGTGTCTGCC c.540
A V A G T P R G P R H L I A G G T V S A p.180
. . . . . . g.7960
CTATGCCAGGCATACCTGGGGCACGGCTATGGCTTTGACCAGGCCCTGGCACTCCTGGTG c.600
L C Q A Y L G H G Y G F D Q A L A L L V p.200
. . . . . . g.8020
GGGCTGCTGGCTGCTGCCGAGACACAGTGCTGGAAGGAGGCGGAGCCCGACCTGCTGGCC c.660
G L L A A A E T Q C W K E A E P D L L A p.220
. . . . . . g.8080
GTGTTGCGGGGCCTCAGTGAGGATTTCCAGAAAGCTGAGGATGCCAGCAAGTTTGAGCTC c.720
V L R G L S E D F Q K A E D A S K F E L p.240
. . . . . . g.8140
TGCCAGCTGCTGCCCCTCTTTTTGCCCCCGACAACCGTGCCCCCTGAATGCTACCGGGAT c.780
C Q L L P L F L P P T T V P P E C Y R D p.260
. . . . . . g.8200
CTGCAGGCCGGGCTGGCACGCATCCTGGGAAGCAAGCTGAGCTCCTGGCAGCGCAACCCT c.840
L Q A G L A R I L G S K L S S W Q R N P p.280
. . . . . . g.8260
GCACTGAAGCTGGCAGCCCGCCTGGCACACGCCTGCGGCTCCGACTGGATCCCGGCGGGC c.900
A L K L A A R L A H A C G S D W I P A G p.300
. . . . . . g.8320
AGCTCCGGGAGCAAGTTCCTGGCCCTGCTGGTGAATCTGGCGTGCGTGGAAGTGCGGCTG c.960
S S G S K F L A L L V N L A C V E V R L p.320
. . . . . . g.8380
GCACTGGAGGAGACGGGCACGGAGGTGAAAGAGGATGTGGTGACCGCCTGCTATGCCCTC c.1020
A L E E T G T E V K E D V V T A C Y A L p.340
. . . . . . g.8440
ATGGAGTTGGGGATCCAGGAATGCACTCGCTGTGAGCAGTCACTGCTTAAGGAGCCACAG c.1080
M E L G I Q E C T R C E Q S L L K E P Q p.360
. . . . . . g.8500
AAGGTGCAGCTCGTGAGCGTCATGAAGGAGGCCATAGGGGCTGTTATCCACTACCTGCTG c.1140
K V Q L V S V M K E A I G A V I H Y L L p.380
| 04 . . . . . . g.9657
CAG | GTGGGGTCAGAGAAGCAGAAGGAGCCCTTTGTGTTTGCCTCGGTGCGGATCCTGGGT c.1200
Q | V G S E K Q K E P F V F A S V R I L G p.400
. . . . . . g.9717
GCCTGGCTGGCCGAGGAGACCTCATCCTTGCGTAAGGAGGTGTGCCAGCTGCTGCCCTTC c.1260
A W L A E E T S S L R K E V C Q L L P F p.420
. . . . . . g.9777
CTCGTCCGCTATGCCAAGACCCTCTACGAGGAGGCCGAGGAGGCCAATGACCTTTCCCAG c.1320
L V R Y A K T L Y E E A E E A N D L S Q p.440
. . . . . . g.9837
CAGGTGGCCAACCTGGCCATCTCCCCCACCACCCCAGGGCCCACCTGGCCAGGAGACGCT c.1380
Q V A N L A I S P T T P G P T W P G D A p.460
| 05 . . . . . . g.10465
CTCCG | GCTCCTCCTGCCTGGCTGGTGCCACCTGACCGTTGAAGATGGGCCCCGGGAGATC c.1440
L R | L L L P G W C H L T V E D G P R E I p.480
. . . . . . g.10525
CTGATCAAGGAAGGGGCCCCCTCGCTTCTGTGCAAGTATTTCCTGCAGCAGTGGGAACTC c.1500
L I K E G A P S L L C K Y F L Q Q W E L p.500
. . . . . . g.10585
ACATCCCCTGGCCACGACACCTCGGTGCTGCCTGACAGCGTGGAGATTGGCCTGCAGACC c.1560
T S P G H D T S V L P D S V E I G L Q T p.520
. . . . . | 06 . g.10985
TGCTGCCACATCTTCCTCAACCTCGTGGTCACCGCACCGGGGCTGATCAA | GCGTGACGCC c.1620
C C H I F L N L V V T A P G L I K | R D A p.540
. . . . . . g.11045
TGCTTCACATCTCTAATGAACACCCTCATGACGTCGCTACCAGCACTAGTGCAGCAACAG c.1680
C F T S L M N T L M T S L P A L V Q Q Q p.560
. . . . . . g.11105
GGAAGGCTGCTTCTGGCTGCTAATGTGGCCACCCTGGGGCTCCTCATGGCCCGGCTCCTT c.1740
G R L L L A A N V A T L G L L M A R L L p.580
. | 07 . . . . . g.12482
AGCACCTCTCCAG | CTCTTCAGGGAACACCAGCATCCCGAGGGTTCTTCGCAGCTGCCATC c.1800
S T S P A | L Q G T P A S R G F F A A A I p.600
. . . . . . g.12542
CTCTTCCTATCACAGTCCCACGTGGCGCGGGCCACCCCGGGCTCAGACCAGGCAGTGCTA c.1860
L F L S Q S H V A R A T P G S D Q A V L p.620
. . . . . . g.12602
GCCCTGTCCCCTGAGTATGAGGGCATCTGGGCCGACCTGCAGGAGCTCTGGTTCCTGGGC c.1920
A L S P E Y E G I W A D L Q E L W F L G p.640
. . . . . . g.12662
ATGCAGGCCTTCACCGGCTGTGTGCCTCTGCTGCCCTGGCTGGCCCCCGCTGCCCTGCGC c.1980
M Q A F T G C V P L L P W L A P A A L R p.660
. . . . . . g.12722
TCCCGCTGGCCGCAGGAGCTGCTCCAGCTGCTAGGCAGTGTCAGCCCCAACTCTGTCAAG c.2040
S R W P Q E L L Q L L G S V S P N S V K p.680
. . . . . . g.12782
CCCGAGATGGTGGCCGCCTATCAGGGTGTCCTGGTGGAGCTGGCGCGGGCCAACCGGCTG c.2100
P E M V A A Y Q G V L V E L A R A N R L p.700
. . . . . . g.12842
TGCCGGGAGGCCATGAGGCTGCAGGCGGGCGAGGAGACGGCCAGCCACTACCGCATGGCT c.2160
C R E A M R L Q A G E E T A S H Y R M A p.720
. . . g.12872
GCCTTGGAGCAGTGCCTGTCAGAGCCCTGA c.2190
A L E Q C L S E P X p.729
. . . . . . g.12932
ggggtgtccaccggggacagacccaggggcgggcagagagggaaggagggaggaggcatc c.*60
. . . . . . g.12992
ttccctgaagcccccaatctggcccccccctccccagacttcctccccaaaacaccccag c.*120
. . . . . . g.13052
ctttctggcttttctgagggcaagggcatggtgcccacccctcaagtgtaaggaactgcg c.*180
. . . . . . g.13112
ttccgcccctcaggcccccatgggggcagggatcggcttggaaatcaacgtggttgtccc c.*240
. . . . . . g.13172
cgccaggccggggaaggttggagcagcccccagggaggggggcactaggtgtcattgtgc c.*300
. . . . . . g.13232
ccgatgtctggctcccctgcaggagggaggctccagggtaagacagggctggcaggagca c.*360
. . . . . . g.13292
gactgcctcagcccatgtgccctgccggccagggcgtgggctcccctcggctgtggtgcc c.*420
. . . . . . g.13352
tcctctggccccccaggtccacgtcctttaaattggccctttggctcttgcccttggctc c.*480
. . . . . . g.13412
ccttgggcagacagcaggcttaggccattgatatcgcagttcttcctatcagcttcagtg c.*540
. . . . . . g.13472
acccagggtctgaactgcctccatcctagggcaacctggggcagacaggcctggtggggg c.*600
. . . . . . g.13532
gtggggaaacctccttccacctgagcttgcttgaagggacccagagtctttgggcccaga c.*660
. . . . . . g.13592
tctttaaacctttgtgtcgtgttgcagcagagtgacgatgggggttggggggttatttat c.*720
. . . . . . g.13652
tttgcctgtccttatccctgcttggacacctgagcatctgattcctgtccccctggtgcc c.*780
. . . . . . g.13712
atctggcctggctggagccaggaacaggagggacacttccccagaatccgcatgtttccc c.*840
. . . . . . g.13772
cagtgattacactccactgccaccgtggtgcctggctttaactcccacccctgctatgac c.*900
. . . . . . g.13832
tcctctctgcagagacgcgactggcggctccagcagggactacctttcttataaacccag c.*960
. . . . . . g.13892
ggggaccacacacacacacacacacacacacacacacacacacacacacacacacactct c.*1020
. . . . . . g.13952
tgatcccttgcttccctcccccagtgcgttctgtgatcgccaagttcaaagctgtgcaca c.*1080
. . . g.13988
tgtggacactcaataaatgttcattggtgacgagaa c.*1116
(downstream sequence)
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