Canonical Allele Identifier: CA912973035

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146791_71146792del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435745_71435746del , CM000673.2:g.71435745_71435746del	GRCh38
NC_000011.9:g.71146791_71146792del , CM000673.1:g.71146791_71146792del	GRCh37
NC_000011.8:g.70824439_70824440del	NCBI36
NG_012655.2:g.17687_17688del , LRG_340:g.17687_17688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1058_1059del	ENSP00000435707.3:p.Val353GlyfsTer?
ENST00000526780.6:c.1058_1059del	ENSP00000435668.2:p.Val353GlyfsTer?
ENST00000527316.6:c.884_885del	ENSP00000435047.2:p.Val295GlyfsTer?
ENST00000682708.1:c.1109_1110del	ENSP00000506866.1:p.Val370GlyfsTer?
ENST00000683287.1:c.1094_1095del	ENSP00000507607.1:p.Val365GlyfsTer?
ENST00000683714.1:c.1066_1067del	ENSP00000508207.1:p.Trp356AlafsTer?
ENST00000684396.1:n.1098_1099del
ENST00000685320.1:c.473_474del	ENSP00000509319.1:p.Val158GlyfsTer?
ENST00000690257.1:c.962_963del	ENSP00000510750.1:p.Val321GlyfsTer?
ENST00000355527.8:c.1058_1059del MANE Select	ENSP00000347717.4:p.Val353GlyfsTer?
ENST00000355527.7:c.1058_1059del	ENSP00000347717.3:p.Val353GlyfsTer?
ENST00000407721.6:c.1058_1059del	ENSP00000384739.2:p.Val353GlyfsTer?
ENST00000525137.1:c.559_560del	ENSP00000435956.1:p.Trp187AlafsTer?
ENST00000533800.5:c.308_309del	ENSP00000435011.1:p.Val103GlyfsTer?
ENST00000534795.5:c.319+2067_319+2068del
NM_001163817.1:c.1058_1059del	NP_001157289.1:p.Val353GlyfsTer?
NM_001360.2:c.1058_1059del , LRG_340t1:c.1058_1059del	NP_001351.2:p.Val353GlyfsTer?
XM_011544777.1:c.1192_1193del	XP_011543079.1:p.Trp398AlafsTer?
XM_011544777.2:c.1192_1193del	XP_011543079.1:p.Trp398AlafsTer?
NM_001163817.2:c.1058_1059del	NP_001157289.1:p.Val353GlyfsTer?
NM_001360.3:c.1058_1059del MANE Select	NP_001351.2:p.Val353GlyfsTer?