Canonical Allele Identifier: CA1981486993

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435736_71435737delinsTG , CM000673.2:g.71435736_71435737delinsTG	GRCh38
NC_000011.9:g.71146782_71146783delinsTG , CM000673.1:g.71146782_71146783delinsTG	GRCh37
NC_000011.8:g.70824430_70824431delinsTG	NCBI36
NG_012655.2:g.17695_17696delinsCA , LRG_340:g.17695_17696delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1066_1067delinsCA	ENSP00000435707.3:p.His356=
ENST00000526780.6:c.1066_1067delinsCA	ENSP00000435668.2:p.His356=
ENST00000527316.6:c.892_893delinsCA	ENSP00000435047.2:p.His298=
ENST00000682708.1:c.1117_1118delinsCA	ENSP00000506866.1:p.His373=
ENST00000683287.1:c.1102_1103delinsCA	ENSP00000507607.1:p.His368=
ENST00000683714.1:c.1074_1075delinsCA	ENSP00000508207.1:p.Thr358=
ENST00000684396.1:n.1106_1107delinsCA
ENST00000685320.1:c.481_482delinsCA	ENSP00000509319.1:p.His161=
ENST00000690257.1:c.970_971delinsCA	ENSP00000510750.1:p.His324=
ENST00000355527.8:c.1066_1067delinsCA MANE Select	ENSP00000347717.4:p.His356=
ENST00000355527.7:c.1066_1067delinsCA	ENSP00000347717.3:p.His356=
ENST00000407721.6:c.1066_1067delinsCA	ENSP00000384739.2:p.His356=
ENST00000525137.1:c.567_568delinsCA	ENSP00000435956.1:p.Thr189=
ENST00000533800.5:c.316_317delinsCA	ENSP00000435011.1:p.His106=
ENST00000534795.5:c.319+2075_319+2076delinsCA
NM_001163817.1:c.1066_1067delinsCA	NP_001157289.1:p.His356=
NM_001360.2:c.1066_1067delinsCA , LRG_340t1:c.1066_1067delinsCA	NP_001351.2:p.His356=
XM_011544777.1:c.1200_1201delinsCA	XP_011543079.1:p.Thr400=
XM_011544777.2:c.1200_1201delinsCA	XP_011543079.1:p.Thr400=
NM_001163817.2:c.1066_1067delinsCA	NP_001157289.1:p.His356=
NM_001360.3:c.1066_1067delinsCA MANE Select	NP_001351.2:p.His356=