Canonical Allele Identifier: CA600040303

Gene: DHCR7

Linked Data

• dbSNP Id: rs1169820691
• gnomAD v2: 11-71155999-TG-T
• gnomAD v4: 11-71444953-TG-T
• MyVariant Identifiers: chr11:g.71156000del (hg19) ; chr11:g.71444954del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444956del , CM000673.2:g.71444956del	GRCh38
NC_000011.9:g.71156002del , CM000673.1:g.71156002del	GRCh37
NC_000011.8:g.70833650del	NCBI36
NG_012655.2:g.8478del , LRG_340:g.8478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.-2del	ENSP00000435707.3:n.-2del
ENST00000526780.6:c.-2del	ENSP00000435668.2:n.-2del
ENST00000527316.6:c.-247del	ENSP00000435047.2:n.-247del
ENST00000529990.6:c.-214del	ENSP00000435058.2:n.-214del
ENST00000682708.1:c.-2del	ENSP00000506866.1:n.-2del
ENST00000682880.1:c.-2del	ENSP00000507520.1:n.-2del
ENST00000683287.1:c.-2del	ENSP00000507607.1:n.-2del
ENST00000683714.1:c.-2del	ENSP00000508207.1:n.-2del
ENST00000683874.1:n.276del
ENST00000685320.1:c.-333-893del	ENSP00000509319.1:n.-333-893del
ENST00000690257.1:c.-2del	ENSP00000510750.1:n.-2del
ENST00000355527.8:c.-2del MANE Select	ENSP00000347717.4:n.-2del
ENST00000355527.7:c.-2del	ENSP00000347717.3:n.-2del
ENST00000407721.6:c.-2del	ENSP00000384739.2:n.-2del
ENST00000525346.5:c.-2del	ENSP00000435707.2:n.-2del
ENST00000526780.5:c.-2del	ENSP00000435668.1:n.-2del
ENST00000527316.5:c.-2del	ENSP00000435047.1:n.-2del
ENST00000527452.1:c.-2del	ENSP00000436007.1:n.-2del
ENST00000529990.5:c.-100del	ENSP00000435058.1:n.-100del
ENST00000531364.5:c.-2del	ENSP00000432589.1:n.-2del
NM_001163817.1:c.-2del	NP_001157289.1:n.-2del
NM_001360.2:c.-2del , LRG_340t1:c.-2del	NP_001351.2:n.-2del
XM_011544777.1:c.-2del	XP_011543079.1:n.-2del
XM_011544777.2:c.-2del	XP_011543079.1:n.-2del
NM_001163817.2:c.-2del	NP_001157289.1:n.-2del
NM_001360.3:c.-2del MANE Select	NP_001351.2:n.-2del