Canonical Allele Identifier: CA2614857703

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435904-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435908_71435909del , CM000673.2:g.71435908_71435909del	GRCh38
NC_000011.9:g.71146954_71146955del , CM000673.1:g.71146954_71146955del	GRCh37
NC_000011.8:g.70824602_70824603del	NCBI36
NG_012655.2:g.17526_17527del , LRG_340:g.17526_17527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-67_964-66del	ENSP00000435707.3:n.964-67_964-66del
ENST00000526780.6:c.964-67_964-66del	ENSP00000435668.2:n.964-67_964-66del
ENST00000527316.6:c.790-67_790-66del	ENSP00000435047.2:n.790-67_790-66del
ENST00000682708.1:c.1015-67_1015-66del	ENSP00000506866.1:n.1015-67_1015-66del
ENST00000683287.1:c.1000-67_1000-66del	ENSP00000507607.1:n.1000-67_1000-66del
ENST00000683714.1:c.972-67_972-66del	ENSP00000508207.1:n.972-67_972-66del
ENST00000684396.1:n.1004-67_1004-66del
ENST00000685320.1:c.379-67_379-66del	ENSP00000509319.1:n.379-67_379-66del
ENST00000690257.1:c.868-67_868-66del	ENSP00000510750.1:n.868-67_868-66del
ENST00000355527.8:c.964-67_964-66del MANE Select	ENSP00000347717.4:n.964-67_964-66del
ENST00000355527.7:c.964-67_964-66del	ENSP00000347717.3:n.964-67_964-66del
ENST00000407721.6:c.964-67_964-66del	ENSP00000384739.2:n.964-67_964-66del
ENST00000525137.1:c.398_399del	ENSP00000435956.1:p.Pro133ArgfsTer?
ENST00000533800.5:c.214-67_214-66del	ENSP00000435011.1:n.214-67_214-66del
ENST00000534795.5:c.319+1906_319+1907del
NM_001163817.1:c.964-67_964-66del	NP_001157289.1:n.964-67_964-66del
NM_001360.2:c.964-67_964-66del , LRG_340t1:c.964-67_964-66del	NP_001351.2:n.964-67_964-66del
XM_011544777.1:c.1031_1032del	XP_011543079.1:p.Pro344ArgfsTer?
XM_011544777.2:c.1031_1032del	XP_011543079.1:p.Pro344ArgfsTer?
NM_001163817.2:c.964-67_964-66del	NP_001157289.1:n.964-67_964-66del
NM_001360.3:c.964-67_964-66del MANE Select	NP_001351.2:n.964-67_964-66del