Canonical Allele Identifier: CA224324057

Gene: DHCR7

Linked Data

• dbSNP Id: rs879079009

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435530_71435531delinsT , CM000673.2:g.71435530_71435531delinsT	GRCh38
NC_000011.9:g.71146576_71146577delinsT , CM000673.1:g.71146576_71146577delinsT	GRCh37
NC_000011.8:g.70824224_70824225delinsT	NCBI36
NG_012655.2:g.17901_17902delinsA , LRG_340:g.17901_17902delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1272_1273delinsA	ENSP00000435707.3:p.Gly425AlafsTer16
ENST00000526780.6:c.1272_1273delinsA	ENSP00000435668.2:p.Gly425AlafsTer16
ENST00000527316.6:c.1098_1099delinsA	ENSP00000435047.2:p.Gly367AlafsTer16
ENST00000682708.1:c.1323_1324delinsA	ENSP00000506866.1:p.Gly442AlafsTer16
ENST00000683287.1:c.1308_1309delinsA	ENSP00000507607.1:p.Gly437AlafsTer16
ENST00000683714.1:c.*35_*36delinsA	ENSP00000508207.1:n.*35_*36delinsA
ENST00000684396.1:n.1312_1313delinsA
ENST00000685320.1:c.687_688delinsA	ENSP00000509319.1:p.Gly230AlafsTer16
ENST00000690257.1:c.1176_1177delinsA	ENSP00000510750.1:p.Gly393AlafsTer16
ENST00000355527.8:c.1272_1273delinsA MANE Select	ENSP00000347717.4:p.Gly425AlafsTer16
ENST00000355527.7:c.1272_1273delinsA	ENSP00000347717.3:p.Gly425AlafsTer16
ENST00000407721.6:c.1272_1273delinsA	ENSP00000384739.2:p.Gly425AlafsTer16
ENST00000525137.1:c.773_774delinsA	ENSP00000435956.1:n.773_774delinsA
ENST00000533800.5:c.522_523delinsA	ENSP00000435011.1:p.Gly175AlafsTer16
ENST00000534795.5:c.319+2281_319+2282delinsA
NM_001163817.1:c.1272_1273delinsA	NP_001157289.1:p.Gly425AlafsTer16
NM_001360.2:c.1272_1273delinsA , LRG_340t1:c.1272_1273delinsA	NP_001351.2:p.Gly425AlafsTer16
XM_011544777.1:c.*35_*36delinsA	XP_011543079.1:n.*35_*36delinsA
XM_011544777.2:c.*35_*36delinsA	XP_011543079.1:n.*35_*36delinsA
NM_001163817.2:c.1272_1273delinsA	NP_001157289.1:p.Gly425AlafsTer16
NM_001360.3:c.1272_1273delinsA MANE Select	NP_001351.2:p.Gly425AlafsTer16