Canonical Allele Identifier: CA2614858004

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71436075-ACCCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436076_71436080del , CM000673.2:g.71436076_71436080del	GRCh38
NC_000011.9:g.71147122_71147126del , CM000673.1:g.71147122_71147126del	GRCh37
NC_000011.8:g.70824770_70824774del	NCBI36
NG_012655.2:g.17352_17356del , LRG_340:g.17352_17356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-241_964-237del	ENSP00000435707.3:n.964-241_964-237del
ENST00000526780.6:c.964-241_964-237del	ENSP00000435668.2:n.964-241_964-237del
ENST00000527316.6:c.790-241_790-237del	ENSP00000435047.2:n.790-241_790-237del
ENST00000682708.1:c.1015-241_1015-237del	ENSP00000506866.1:n.1015-241_1015-237del
ENST00000683287.1:c.1000-241_1000-237del	ENSP00000507607.1:n.1000-241_1000-237del
ENST00000683714.1:c.972-241_972-237del	ENSP00000508207.1:n.972-241_972-237del
ENST00000684396.1:n.1004-241_1004-237del
ENST00000685320.1:c.379-241_379-237del	ENSP00000509319.1:n.379-241_379-237del
ENST00000690257.1:c.868-241_868-237del	ENSP00000510750.1:n.868-241_868-237del
ENST00000355527.8:c.964-241_964-237del MANE Select	ENSP00000347717.4:n.964-241_964-237del
ENST00000355527.7:c.964-241_964-237del	ENSP00000347717.3:n.964-241_964-237del
ENST00000407721.6:c.964-241_964-237del	ENSP00000384739.2:n.964-241_964-237del
ENST00000525137.1:c.331-107_331-103del	ENSP00000435956.1:n.331-107_331-103del
ENST00000533800.5:c.214-241_214-237del	ENSP00000435011.1:n.214-241_214-237del
ENST00000534795.5:c.319+1732_319+1736del
NM_001163817.1:c.964-241_964-237del	NP_001157289.1:n.964-241_964-237del
NM_001360.2:c.964-241_964-237del , LRG_340t1:c.964-241_964-237del	NP_001351.2:n.964-241_964-237del
XM_011544777.1:c.964-107_964-103del	XP_011543079.1:n.964-107_964-103del
XM_011544777.2:c.964-107_964-103del	XP_011543079.1:n.964-107_964-103del
NM_001163817.2:c.964-241_964-237del	NP_001157289.1:n.964-241_964-237del
NM_001360.3:c.964-241_964-237del MANE Select	NP_001351.2:n.964-241_964-237del