Canonical Allele Identifier: CA2614857185

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435614-A-ACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435617_71435619dup , CM000673.2:g.71435617_71435619dup	GRCh38
NC_000011.9:g.71146663_71146665dup , CM000673.1:g.71146663_71146665dup	GRCh37
NC_000011.8:g.70824311_70824313dup	NCBI36
NG_012655.2:g.17815_17817dup , LRG_340:g.17815_17817dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1186_1188dup	ENSP00000435707.3:p.Val396_Ser397insVal
ENST00000526780.6:c.1186_1188dup	ENSP00000435668.2:p.Val396_Ser397insVal
ENST00000527316.6:c.1012_1014dup	ENSP00000435047.2:p.Val338_Ser339insVal
ENST00000682708.1:c.1237_1239dup	ENSP00000506866.1:p.Val413_Ser414insVal
ENST00000683287.1:c.1222_1224dup	ENSP00000507607.1:p.Val408_Ser409insVal
ENST00000683714.1:c.1194_1196dup	ENSP00000508207.1:p.Trp398_Cys399insTrp
ENST00000684396.1:n.1226_1228dup
ENST00000685320.1:c.601_603dup	ENSP00000509319.1:p.Val201_Ser202insVal
ENST00000690257.1:c.1090_1092dup	ENSP00000510750.1:p.Val364_Ser365insVal
ENST00000355527.8:c.1186_1188dup MANE Select	ENSP00000347717.4:p.Val396_Ser397insVal
ENST00000355527.7:c.1186_1188dup	ENSP00000347717.3:p.Val396_Ser397insVal
ENST00000407721.6:c.1186_1188dup	ENSP00000384739.2:p.Val396_Ser397insVal
ENST00000525137.1:c.687_689dup	ENSP00000435956.1:p.Trp229_Cys230insTrp
ENST00000533800.5:c.436_438dup	ENSP00000435011.1:p.Val146_Ser147insVal
ENST00000534795.5:c.319+2195_319+2197dup
NM_001163817.1:c.1186_1188dup	NP_001157289.1:p.Val396_Ser397insVal
NM_001360.2:c.1186_1188dup , LRG_340t1:c.1186_1188dup	NP_001351.2:p.Val396_Ser397insVal
XM_011544777.1:c.1320_1322dup	XP_011543079.1:p.Trp440_Cys441insTrp
XM_011544777.2:c.1320_1322dup	XP_011543079.1:p.Trp440_Cys441insTrp
NM_001163817.2:c.1186_1188dup	NP_001157289.1:p.Val396_Ser397insVal
NM_001360.3:c.1186_1188dup MANE Select	NP_001351.2:p.Val396_Ser397insVal