Canonical Allele Identifier: CA1981486797

Gene: DHCR7

Linked Data

• dbSNP Id: rs1949263106
• gnomAD v4: 11-71435413-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435413_71435414insA , CM000673.2:g.71435413_71435414insA	GRCh38
NC_000011.9:g.71146459_71146460insA , CM000673.1:g.71146459_71146460insA	GRCh37
NC_000011.8:g.70824107_70824108insA	NCBI36
NG_012655.2:g.18018_18019insT , LRG_340:g.18018_18019insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1389_1390insT	ENSP00000435707.3:p.Ala464CysfsTer?
ENST00000526780.6:c.1389_1390insT	ENSP00000435668.2:p.Ala464CysfsTer?
ENST00000527316.6:c.1215_1216insT	ENSP00000435047.2:p.Ala406CysfsTer?
ENST00000682708.1:c.1440_1441insT	ENSP00000506866.1:p.Ala481CysfsTer?
ENST00000683287.1:c.1425_1426insT	ENSP00000507607.1:p.Ala476CysfsTer?
ENST00000683714.1:c.*152_*153insT	ENSP00000508207.1:n.*152_*153insT
ENST00000684396.1:n.1429_1430insT
ENST00000685320.1:c.804_805insT	ENSP00000509319.1:p.Ala269CysfsTer?
ENST00000690257.1:c.1293_1294insT	ENSP00000510750.1:p.Ala432CysfsTer?
ENST00000355527.8:c.1389_1390insT MANE Select	ENSP00000347717.4:p.Ala464CysfsTer?
ENST00000355527.7:c.1389_1390insT	ENSP00000347717.3:p.Ala464CysfsTer?
ENST00000407721.6:c.1389_1390insT	ENSP00000384739.2:p.Ala464CysfsTer?
ENST00000525137.1:c.890_891insT	ENSP00000435956.1:n.890_891insT
ENST00000533800.5:c.611+28_611+29insT	ENSP00000435011.1:n.611+28_611+29insT
ENST00000534795.5:c.319+2398_319+2399insT
NM_001163817.1:c.1389_1390insT	NP_001157289.1:p.Ala464CysfsTer?
NM_001360.2:c.1389_1390insT , LRG_340t1:c.1389_1390insT	NP_001351.2:p.Ala464CysfsTer?
XM_011544777.1:c.*152_*153insT	XP_011543079.1:n.*152_*153insT
XM_011544777.2:c.*152_*153insT	XP_011543079.1:n.*152_*153insT
NM_001163817.2:c.1389_1390insT	NP_001157289.1:p.Ala464CysfsTer?
NM_001360.3:c.1389_1390insT MANE Select	NP_001351.2:p.Ala464CysfsTer?