Canonical Allele Identifier: CA6162717

Gene: DHCR7

Linked Data

• dbSNP Id: rs749174332
• ExAC: 11:71155938 C / CT
• gnomAD v2: 11-71155938-C-CT
• gnomAD v4: 11-71444892-C-CT
• MyVariant Identifiers: chr11:g.71155938_71155939insT (hg19) ; chr11:g.71444892_71444893insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71444892_71444893insT , CM000673.2:g.71444892_71444893insT	GRCh38
NC_000011.9:g.71155938_71155939insT , CM000673.1:g.71155938_71155939insT	GRCh37
NC_000011.8:g.70833586_70833587insT	NCBI36
NG_012655.2:g.8539_8540insA , LRG_340:g.8539_8540insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.60_61insA	ENSP00000435707.3:p.Asp21ArgfsTer?
ENST00000526780.6:c.60_61insA	ENSP00000435668.2:p.Asp21ArgfsTer?
ENST00000527316.6:c.-186_-185insA	ENSP00000435047.2:n.-186_-185insA
ENST00000529990.6:c.-153_-152insA	ENSP00000435058.2:n.-153_-152insA
ENST00000682708.1:c.60_61insA	ENSP00000506866.1:p.Asp21ArgfsTer?
ENST00000682880.1:c.60_61insA	ENSP00000507520.1:p.Asp21ArgfsTer?
ENST00000683287.1:c.60_61insA	ENSP00000507607.1:p.Asp21ArgfsTer?
ENST00000683714.1:c.60_61insA	ENSP00000508207.1:p.Asp21ArgfsTer?
ENST00000683874.1:n.337_338insA
ENST00000685320.1:c.-333-832_-333-831insA	ENSP00000509319.1:n.-333-832_-333-831insA
ENST00000690257.1:c.60_61insA	ENSP00000510750.1:p.Asp21ArgfsTer?
ENST00000355527.8:c.60_61insA MANE Select	ENSP00000347717.4:p.Asp21ArgfsTer?
ENST00000355527.7:c.60_61insA	ENSP00000347717.3:p.Asp21ArgfsTer?
ENST00000407721.6:c.60_61insA	ENSP00000384739.2:p.Asp21ArgfsTer?
ENST00000525346.5:c.60_61insA	ENSP00000435707.2:p.Asp21ArgfsTer?
ENST00000526780.5:c.60_61insA	ENSP00000435668.1:p.Asp21ArgfsTer?
ENST00000527316.5:c.60_61insA	ENSP00000435047.1:p.Asp21ArgfsTer?
ENST00000527452.1:c.60_61insA	ENSP00000436007.1:p.Asp21ArgfsTer?
ENST00000529990.5:c.-39_-38insA	ENSP00000435058.1:n.-39_-38insA
ENST00000531364.5:c.60_61insA	ENSP00000432589.1:p.Asp21ArgfsTer?
NM_001163817.1:c.60_61insA	NP_001157289.1:p.Asp21ArgfsTer?
NM_001360.2:c.60_61insA , LRG_340t1:c.60_61insA	NP_001351.2:p.Asp21ArgfsTer?
XM_011544777.1:c.60_61insA	XP_011543079.1:p.Asp21ArgfsTer?
XM_011544777.2:c.60_61insA	XP_011543079.1:p.Asp21ArgfsTer?
NM_001163817.2:c.60_61insA	NP_001157289.1:p.Asp21ArgfsTer?
NM_001360.3:c.60_61insA MANE Select	NP_001351.2:p.Asp21ArgfsTer?