Canonical Allele Identifier: CA2566077296

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71436047-CTGTGTGTGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71436057_71436066del , CM000673.2:g.71436057_71436066del	GRCh38
NC_000011.9:g.71147103_71147112del , CM000673.1:g.71147103_71147112del	GRCh37
NC_000011.8:g.70824751_70824760del	NCBI36
NG_012655.2:g.17375_17384del , LRG_340:g.17375_17384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-218_964-209del	ENSP00000435707.3:n.964-218_964-209del
ENST00000526780.6:c.964-218_964-209del	ENSP00000435668.2:n.964-218_964-209del
ENST00000527316.6:c.790-218_790-209del	ENSP00000435047.2:n.790-218_790-209del
ENST00000682708.1:c.1015-218_1015-209del	ENSP00000506866.1:n.1015-218_1015-209del
ENST00000683287.1:c.1000-218_1000-209del	ENSP00000507607.1:n.1000-218_1000-209del
ENST00000683714.1:c.972-218_972-209del	ENSP00000508207.1:n.972-218_972-209del
ENST00000684396.1:n.1004-218_1004-209del
ENST00000685320.1:c.379-218_379-209del	ENSP00000509319.1:n.379-218_379-209del
ENST00000690257.1:c.868-218_868-209del	ENSP00000510750.1:n.868-218_868-209del
ENST00000355527.8:c.964-218_964-209del MANE Select	ENSP00000347717.4:n.964-218_964-209del
ENST00000355527.7:c.964-218_964-209del	ENSP00000347717.3:n.964-218_964-209del
ENST00000407721.6:c.964-218_964-209del	ENSP00000384739.2:n.964-218_964-209del
ENST00000525137.1:c.331-84_331-75del	ENSP00000435956.1:n.331-84_331-75del
ENST00000533800.5:c.214-218_214-209del	ENSP00000435011.1:n.214-218_214-209del
ENST00000534795.5:c.319+1755_319+1764del
NM_001163817.1:c.964-218_964-209del	NP_001157289.1:n.964-218_964-209del
NM_001360.2:c.964-218_964-209del , LRG_340t1:c.964-218_964-209del	NP_001351.2:n.964-218_964-209del
XM_011544777.1:c.964-84_964-75del	XP_011543079.1:n.964-84_964-75del
XM_011544777.2:c.964-84_964-75del	XP_011543079.1:n.964-84_964-75del
NM_001163817.2:c.964-218_964-209del	NP_001157289.1:n.964-218_964-209del
NM_001360.3:c.964-218_964-209del MANE Select	NP_001351.2:n.964-218_964-209del