Canonical Allele Identifier: CA6162587
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 370449
ClinVar RCV Id: RCV000411588 RCV000734341 RCV003401384
dbSNP Id: rs746482788
ExAC: 11:71153303 GGCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT / G
gnomAD v2: 11-71153303-GGCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT-G
gnomAD v3: 11-71442257-GGCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT-G
gnomAD v4: 11-71442257-GGCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT-G
MyVariant Identifiers: chr11:g.71153304_71153336del (hg19) chr11:g.71442258_71442290del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71442260_71442292del , CM000673.2:g.71442260_71442292del GRCh38
NC_000011.9:g.71153306_71153338del , CM000673.1:g.71153306_71153338del GRCh37
NC_000011.8:g.70830954_70830986del NCBI36
NG_012655.2:g.11142_11174del , LRG_340:g.11142_11174del

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.385_412+5del
ENST00000526780.6:c.385_412+5del
ENST00000527316.6:c.211_238+5del
ENST00000682708.1:c.385_412+5del
ENST00000682880.1:c.385_412+5del
ENST00000683287.1:c.421_448+5del
ENST00000683714.1:c.385_412+5del
ENST00000683874.1:n.662_689+5del
ENST00000685320.1:c.-201_-174+5del
ENST00000690257.1:c.289_316+5del
ENST00000355527.8:c.385_412+5del
ENST00000355527.7:c.385_412+5del
ENST00000407721.6:c.385_412+5del
ENST00000526780.5:c.385_412+5del
ENST00000527316.5:c.289_316+5del
NM_001163817.1:c.385_412+5del
NM_001360.2:c.385_412+5del , LRG_340t1:c.385_412+5del
XM_011544777.1:c.385_412+5del
XM_011544777.2:c.385_412+5del
NM_001163817.2:c.385_412+5del
NM_001360.3:c.385_412+5del
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