Canonical Allele Identifier: CA679803216

Gene: DHCR7

Linked Data

• dbSNP Id: rs1405635204
• gnomAD v3: 11-71442483-A-AT
• gnomAD v4: 11-71442483-A-AT
• MyVariant Identifiers: chr11:g.71153529_71153530insT (hg19) ; chr11:g.71442483_71442484insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442483_71442484insT , CM000673.2:g.71442483_71442484insT	GRCh38
NC_000011.9:g.71153529_71153530insT , CM000673.1:g.71153529_71153530insT	GRCh37
NC_000011.8:g.70831177_70831178insT	NCBI36
NG_012655.2:g.10948_10949insA , LRG_340:g.10948_10949insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.322-131_322-130insA	ENSP00000435707.3:n.322-131_322-130insA
ENST00000526780.6:c.322-131_322-130insA	ENSP00000435668.2:n.322-131_322-130insA
ENST00000527316.6:c.148-131_148-130insA	ENSP00000435047.2:n.148-131_148-130insA
ENST00000682708.1:c.322-131_322-130insA	ENSP00000506866.1:n.322-131_322-130insA
ENST00000682880.1:c.322-131_322-130insA	ENSP00000507520.1:n.322-131_322-130insA
ENST00000683287.1:c.358-131_358-130insA	ENSP00000507607.1:n.358-131_358-130insA
ENST00000683714.1:c.322-131_322-130insA	ENSP00000508207.1:n.322-131_322-130insA
ENST00000683874.1:n.599-131_599-130insA
ENST00000685320.1:c.-264-131_-264-130insA	ENSP00000509319.1:n.-264-131_-264-130insA
ENST00000690257.1:c.226-131_226-130insA	ENSP00000510750.1:n.226-131_226-130insA
ENST00000355527.8:c.322-131_322-130insA MANE Select	ENSP00000347717.4:n.322-131_322-130insA
ENST00000355527.7:c.322-131_322-130insA	ENSP00000347717.3:n.322-131_322-130insA
ENST00000407721.6:c.322-131_322-130insA	ENSP00000384739.2:n.322-131_322-130insA
ENST00000526780.5:c.322-131_322-130insA	ENSP00000435668.1:n.322-131_322-130insA
ENST00000527316.5:c.226-131_226-130insA	ENSP00000435047.1:n.226-131_226-130insA
NM_001163817.1:c.322-131_322-130insA	NP_001157289.1:n.322-131_322-130insA
NM_001360.2:c.322-131_322-130insA , LRG_340t1:c.322-131_322-130insA	NP_001351.2:n.322-131_322-130insA
XM_011544777.1:c.322-131_322-130insA	XP_011543079.1:n.322-131_322-130insA
XM_011544777.2:c.322-131_322-130insA	XP_011543079.1:n.322-131_322-130insA
NM_001163817.2:c.322-131_322-130insA	NP_001157289.1:n.322-131_322-130insA
NM_001360.3:c.322-131_322-130insA MANE Select	NP_001351.2:n.322-131_322-130insA