Canonical Allele Identifier: CA1981487000

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435745_71435746delinsAC , CM000673.2:g.71435745_71435746delinsAC	GRCh38
NC_000011.9:g.71146791_71146792delinsAC , CM000673.1:g.71146791_71146792delinsAC	GRCh37
NC_000011.8:g.70824439_70824440delinsAC	NCBI36
NG_012655.2:g.17686_17687delinsGT , LRG_340:g.17686_17687delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1057_1058delinsGT	ENSP00000435707.3:p.Val353=
ENST00000526780.6:c.1057_1058delinsGT	ENSP00000435668.2:p.Val353=
ENST00000527316.6:c.883_884delinsGT	ENSP00000435047.2:p.Val295=
ENST00000682708.1:c.1108_1109delinsGT	ENSP00000506866.1:p.Val370=
ENST00000683287.1:c.1093_1094delinsGT	ENSP00000507607.1:p.Val365=
ENST00000683714.1:c.1065_1066delinsGT	ENSP00000508207.1:p.Gly355=
ENST00000684396.1:n.1097_1098delinsGT
ENST00000685320.1:c.472_473delinsGT	ENSP00000509319.1:p.Val158=
ENST00000690257.1:c.961_962delinsGT	ENSP00000510750.1:p.Val321=
ENST00000355527.8:c.1057_1058delinsGT MANE Select	ENSP00000347717.4:p.Val353=
ENST00000355527.7:c.1057_1058delinsGT	ENSP00000347717.3:p.Val353=
ENST00000407721.6:c.1057_1058delinsGT	ENSP00000384739.2:p.Val353=
ENST00000525137.1:c.558_559delinsGT	ENSP00000435956.1:p.Gly186=
ENST00000533800.5:c.307_308delinsGT	ENSP00000435011.1:p.Val103=
ENST00000534795.5:c.319+2066_319+2067delinsGT
NM_001163817.1:c.1057_1058delinsGT	NP_001157289.1:p.Val353=
NM_001360.2:c.1057_1058delinsGT , LRG_340t1:c.1057_1058delinsGT	NP_001351.2:p.Val353=
XM_011544777.1:c.1191_1192delinsGT	XP_011543079.1:p.Gly397=
XM_011544777.2:c.1191_1192delinsGT	XP_011543079.1:p.Gly397=
NM_001163817.2:c.1057_1058delinsGT	NP_001157289.1:p.Val353=
NM_001360.3:c.1057_1058delinsGT MANE Select	NP_001351.2:p.Val353=