Canonical Allele Identifier: CA6162540

Gene: DHCR7

Linked Data

• dbSNP Id: rs779528392
• ExAC: 11:71152360 A / AGTG
• MyVariant Identifiers: chr11:g.71152360_71152361insGTG (hg19) ; chr11:g.71441314_71441315insGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441316_71441318dup , CM000673.2:g.71441316_71441318dup	GRCh38
NC_000011.9:g.71152362_71152364dup , CM000673.1:g.71152362_71152364dup	GRCh37
NC_000011.8:g.70830010_70830012dup	NCBI36
NG_012655.2:g.12115_12117dup , LRG_340:g.12115_12117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.536_538dup	ENSP00000435707.3:p.Pro179_Leu180insPro
ENST00000526780.6:c.536_538dup	ENSP00000435668.2:p.Pro179_Leu180insPro
ENST00000527316.6:c.362_364dup	ENSP00000435047.2:p.Pro121_Leu122insPro
ENST00000682708.1:c.536_538dup	ENSP00000506866.1:p.Pro179_Leu180insPro
ENST00000682880.1:c.536_538dup	ENSP00000507520.1:p.Pro179_Leu180insPro
ENST00000683287.1:c.572_574dup	ENSP00000507607.1:p.Pro191_Leu192insPro
ENST00000683714.1:c.536_538dup	ENSP00000508207.1:p.Pro179_Leu180insPro
ENST00000683874.1:n.813_815dup
ENST00000685320.1:c.-50_-48dup	ENSP00000509319.1:n.-50_-48dup
ENST00000690257.1:c.440_442dup	ENSP00000510750.1:p.Pro147_Leu148insPro
ENST00000355527.8:c.536_538dup MANE Select	ENSP00000347717.4:p.Pro179_Leu180insPro
ENST00000355527.7:c.536_538dup	ENSP00000347717.3:p.Pro179_Leu180insPro
ENST00000407721.6:c.536_538dup	ENSP00000384739.2:p.Pro179_Leu180insPro
ENST00000527316.5:c.440_442dup	ENSP00000435047.1:p.Pro147_Leu148insPro
ENST00000534701.1:n.31_33dup
NM_001163817.1:c.536_538dup	NP_001157289.1:p.Pro179_Leu180insPro
NM_001360.2:c.536_538dup , LRG_340t1:c.536_538dup	NP_001351.2:p.Pro179_Leu180insPro
XM_011544777.1:c.536_538dup	XP_011543079.1:p.Pro179_Leu180insPro
XM_011544777.2:c.536_538dup	XP_011543079.1:p.Pro179_Leu180insPro
NM_001163817.2:c.536_538dup	NP_001157289.1:p.Pro179_Leu180insPro
NM_001360.3:c.536_538dup MANE Select	NP_001351.2:p.Pro179_Leu180insPro