Canonical Allele Identifier: CA939372332

Gene: DHCR7

Linked Data

• gnomAD v3: 11-71435906-GGGGCCC-G
• gnomAD v4: 11-71435906-GGGGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435907_71435912del , CM000673.2:g.71435907_71435912del	GRCh38
NC_000011.9:g.71146953_71146958del , CM000673.1:g.71146953_71146958del	GRCh37
NC_000011.8:g.70824601_70824606del	NCBI36
NG_012655.2:g.17520_17525del , LRG_340:g.17520_17525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.964-73_964-68del	ENSP00000435707.3:n.964-73_964-68del
ENST00000526780.6:c.964-73_964-68del	ENSP00000435668.2:n.964-73_964-68del
ENST00000527316.6:c.790-73_790-68del	ENSP00000435047.2:n.790-73_790-68del
ENST00000682708.1:c.1015-73_1015-68del	ENSP00000506866.1:n.1015-73_1015-68del
ENST00000683287.1:c.1000-73_1000-68del	ENSP00000507607.1:n.1000-73_1000-68del
ENST00000683714.1:c.972-73_972-68del	ENSP00000508207.1:n.972-73_972-68del
ENST00000684396.1:n.1004-73_1004-68del
ENST00000685320.1:c.379-73_379-68del	ENSP00000509319.1:n.379-73_379-68del
ENST00000690257.1:c.868-73_868-68del	ENSP00000510750.1:n.868-73_868-68del
ENST00000355527.8:c.964-73_964-68del MANE Select	ENSP00000347717.4:n.964-73_964-68del
ENST00000355527.7:c.964-73_964-68del	ENSP00000347717.3:n.964-73_964-68del
ENST00000407721.6:c.964-73_964-68del	ENSP00000384739.2:n.964-73_964-68del
ENST00000525137.1:c.392_397del	ENSP00000435956.1:p.Trp131_Pro133delinsSer
ENST00000533800.5:c.214-73_214-68del	ENSP00000435011.1:n.214-73_214-68del
ENST00000534795.5:c.319+1900_319+1905del
NM_001163817.1:c.964-73_964-68del	NP_001157289.1:n.964-73_964-68del
NM_001360.2:c.964-73_964-68del , LRG_340t1:c.964-73_964-68del	NP_001351.2:n.964-73_964-68del
XM_011544777.1:c.1025_1030del	XP_011543079.1:p.Trp342_Pro344delinsSer
XM_011544777.2:c.1025_1030del	XP_011543079.1:p.Trp342_Pro344delinsSer
NM_001163817.2:c.964-73_964-68del	NP_001157289.1:n.964-73_964-68del
NM_001360.3:c.964-73_964-68del MANE Select	NP_001351.2:n.964-73_964-68del