Canonical Allele Identifier: CA2580084842

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71438975_71438990del , CM000673.2:g.71438975_71438990del	GRCh38
NC_000011.9:g.71150021_71150036del , CM000673.1:g.71150021_71150036del	GRCh37
NC_000011.8:g.70827669_70827684del	NCBI36
NG_012655.2:g.14442_14457del , LRG_340:g.14442_14457del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.720_735del	ENSP00000435707.3:p.Asn240LysfsTer22
ENST00000526780.6:c.720_735del	ENSP00000435668.2:p.Asn240LysfsTer22
ENST00000527316.6:c.546_561del	ENSP00000435047.2:p.Asn182LysfsTer22
ENST00000682708.1:c.771_786del	ENSP00000506866.1:p.Asn257LysfsTer22
ENST00000682880.1:c.720_735del	ENSP00000507520.1:p.Asn240LysfsTer22
ENST00000683287.1:c.756_771del	ENSP00000507607.1:p.Asn252LysfsTer22
ENST00000683714.1:c.720_735del	ENSP00000508207.1:p.Asn240LysfsTer22
ENST00000684396.1:n.760_775del
ENST00000685320.1:c.135_150del	ENSP00000509319.1:p.Asn45LysfsTer22
ENST00000690257.1:c.624_639del	ENSP00000510750.1:p.Asn208LysfsTer22
ENST00000355527.8:c.720_735del MANE Select	ENSP00000347717.4:p.Asn240LysfsTer22
ENST00000355527.7:c.720_735del	ENSP00000347717.3:p.Asn240LysfsTer22
ENST00000407721.6:c.720_735del	ENSP00000384739.2:p.Asn240LysfsTer22
ENST00000525137.1:c.87_102del	ENSP00000435956.1:p.Asn29LysfsTer22
ENST00000527316.5:c.624_639del	ENSP00000435047.1:p.Asn208LysfsTer22
ENST00000534701.1:n.215_230del
ENST00000534795.5:c.76_91del
NM_001163817.1:c.720_735del	NP_001157289.1:p.Asn240LysfsTer22
NM_001360.2:c.720_735del , LRG_340t1:c.720_735del	NP_001351.2:p.Asn240LysfsTer22
XM_011544777.1:c.720_735del	XP_011543079.1:p.Asn240LysfsTer22
XM_011544777.2:c.720_735del	XP_011543079.1:p.Asn240LysfsTer22
NM_001163817.2:c.720_735del	NP_001157289.1:p.Asn240LysfsTer22
NM_001360.3:c.720_735del MANE Select	NP_001351.2:p.Asn240LysfsTer22