Canonical Allele Identifier: CA2614857184

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435552-G-GGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435553_71435555dup , CM000673.2:g.71435553_71435555dup	GRCh38
NC_000011.9:g.71146599_71146601dup , CM000673.1:g.71146599_71146601dup	GRCh37
NC_000011.8:g.70824247_70824249dup	NCBI36
NG_012655.2:g.17877_17879dup , LRG_340:g.17877_17879dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1248_1250dup	ENSP00000435707.3:p.Ala417_Tyr418insAla
ENST00000526780.6:c.1248_1250dup	ENSP00000435668.2:p.Ala417_Tyr418insAla
ENST00000527316.6:c.1074_1076dup	ENSP00000435047.2:p.Ala359_Tyr360insAla
ENST00000682708.1:c.1299_1301dup	ENSP00000506866.1:p.Ala434_Tyr435insAla
ENST00000683287.1:c.1284_1286dup	ENSP00000507607.1:p.Ala429_Tyr430insAla
ENST00000683714.1:c.*11_*13dup	ENSP00000508207.1:n.*11_*13dup
ENST00000684396.1:n.1288_1290dup
ENST00000685320.1:c.663_665dup	ENSP00000509319.1:p.Ala222_Tyr223insAla
ENST00000690257.1:c.1152_1154dup	ENSP00000510750.1:p.Ala385_Tyr386insAla
ENST00000355527.8:c.1248_1250dup MANE Select	ENSP00000347717.4:p.Ala417_Tyr418insAla
ENST00000355527.7:c.1248_1250dup	ENSP00000347717.3:p.Ala417_Tyr418insAla
ENST00000407721.6:c.1248_1250dup	ENSP00000384739.2:p.Ala417_Tyr418insAla
ENST00000525137.1:c.749_751dup	ENSP00000435956.1:n.749_751dup
ENST00000533800.5:c.498_500dup	ENSP00000435011.1:p.Ala167_Tyr168insAla
ENST00000534795.5:c.319+2257_319+2259dup
NM_001163817.1:c.1248_1250dup	NP_001157289.1:p.Ala417_Tyr418insAla
NM_001360.2:c.1248_1250dup , LRG_340t1:c.1248_1250dup	NP_001351.2:p.Ala417_Tyr418insAla
XM_011544777.1:c.*11_*13dup	XP_011543079.1:n.*11_*13dup
XM_011544777.2:c.*11_*13dup	XP_011543079.1:n.*11_*13dup
NM_001163817.2:c.1248_1250dup	NP_001157289.1:p.Ala417_Tyr418insAla
NM_001360.3:c.1248_1250dup MANE Select	NP_001351.2:p.Ala417_Tyr418insAla