Canonical Allele Identifier: CA6162448

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 854087
• ClinVar RCV Id: RCV001059048
• dbSNP Id: rs757697462
• ExAC: 11:71149930 GGACGTT / G
• gnomAD v2: 11-71149930-GGACGTT-G
• gnomAD v4: 11-71438884-GGACGTT-G
• MyVariant Identifiers: chr11:g.71149931_71149936del (hg19) ; chr11:g.71438885_71438890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438888_71438893del , CM000673.2:g.71438888_71438893del	GRCh38
NC_000011.9:g.71149934_71149939del , CM000673.1:g.71149934_71149939del	GRCh37
NC_000011.8:g.70827582_70827587del	NCBI36
NG_012655.2:g.14542_14547del , LRG_340:g.14542_14547del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.820_825del	ENSP00000435707.3:p.Asn274_Val275del
ENST00000526780.6:c.820_825del	ENSP00000435668.2:p.Asn274_Val275del
ENST00000527316.6:c.646_651del	ENSP00000435047.2:p.Asn216_Val217del
ENST00000682708.1:c.871_876del	ENSP00000506866.1:p.Asn291_Val292del
ENST00000682880.1:c.820_825del	ENSP00000507520.1:p.Asn274_Val275del
ENST00000683287.1:c.856_861del	ENSP00000507607.1:p.Asn286_Val287del
ENST00000683714.1:c.820_825del	ENSP00000508207.1:p.Asn274_Val275del
ENST00000684396.1:n.860_865del
ENST00000685320.1:c.235_240del	ENSP00000509319.1:p.Asn79_Val80del
ENST00000690257.1:c.724_729del	ENSP00000510750.1:p.Asn242_Val243del
ENST00000355527.8:c.820_825del MANE Select	ENSP00000347717.4:p.Asn274_Val275del
ENST00000355527.7:c.820_825del	ENSP00000347717.3:p.Asn274_Val275del
ENST00000407721.6:c.820_825del	ENSP00000384739.2:p.Asn274_Val275del
ENST00000525137.1:c.187_192del	ENSP00000435956.1:p.Asn63_Val64del
ENST00000527316.5:c.724_729del	ENSP00000435047.1:p.Asn242_Val243del
ENST00000533800.5:c.70_75del	ENSP00000435011.1:p.Asn24_Val25del
ENST00000534701.1:n.315_320del
ENST00000534795.5:c.176_181del
NM_001163817.1:c.820_825del	NP_001157289.1:p.Asn274_Val275del
NM_001360.2:c.820_825del , LRG_340t1:c.820_825del	NP_001351.2:p.Asn274_Val275del
XM_011544777.1:c.820_825del	XP_011543079.1:p.Asn274_Val275del
XM_011544777.2:c.820_825del	XP_011543079.1:p.Asn274_Val275del
NM_001163817.2:c.820_825del	NP_001157289.1:p.Asn274_Val275del
NM_001360.3:c.820_825del MANE Select	NP_001351.2:p.Asn274_Val275del