Canonical Allele Identifier: CA2614861785

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71442264-TGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442266_71442268del , CM000673.2:g.71442266_71442268del	GRCh38
NC_000011.9:g.71153312_71153314del , CM000673.1:g.71153312_71153314del	GRCh37
NC_000011.8:g.70830960_70830962del	NCBI36
NG_012655.2:g.11165_11167del , LRG_340:g.11165_11167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.408_410del	ENSP00000435707.3:p.Ala137del
ENST00000526780.6:c.408_410del	ENSP00000435668.2:p.Ala137del
ENST00000527316.6:c.234_236del	ENSP00000435047.2:p.Ala79del
ENST00000682708.1:c.408_410del	ENSP00000506866.1:p.Ala137del
ENST00000682880.1:c.408_410del	ENSP00000507520.1:p.Ala137del
ENST00000683287.1:c.444_446del	ENSP00000507607.1:p.Ala149del
ENST00000683714.1:c.408_410del	ENSP00000508207.1:p.Ala137del
ENST00000683874.1:n.685_687del
ENST00000685320.1:c.-178_-176del	ENSP00000509319.1:n.-178_-176del
ENST00000690257.1:c.312_314del	ENSP00000510750.1:p.Ala105del
ENST00000355527.8:c.408_410del MANE Select	ENSP00000347717.4:p.Ala137del
ENST00000355527.7:c.408_410del	ENSP00000347717.3:p.Ala137del
ENST00000407721.6:c.408_410del	ENSP00000384739.2:p.Ala137del
ENST00000526780.5:c.408_410del	ENSP00000435668.1:p.Ala137del
ENST00000527316.5:c.312_314del	ENSP00000435047.1:p.Ala105del
NM_001163817.1:c.408_410del	NP_001157289.1:p.Ala137del
NM_001360.2:c.408_410del , LRG_340t1:c.408_410del	NP_001351.2:p.Ala137del
XM_011544777.1:c.408_410del	XP_011543079.1:p.Ala137del
XM_011544777.2:c.408_410del	XP_011543079.1:p.Ala137del
NM_001163817.2:c.408_410del	NP_001157289.1:p.Ala137del
NM_001360.3:c.408_410del MANE Select	NP_001351.2:p.Ala137del