Canonical Allele Identifier: CA600051903

Gene: DHCR7

Linked Data

• dbSNP Id: rs1250060529
• gnomAD v2: 11-71148941-TC-T
• gnomAD v4: 11-71437895-TC-T
• MyVariant Identifiers: chr11:g.71148942del (hg19) ; chr11:g.71437896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437896del , CM000673.2:g.71437896del	GRCh38
NC_000011.9:g.71148942del , CM000673.1:g.71148942del	GRCh37
NC_000011.8:g.70826590del	NCBI36
NG_012655.2:g.15536del , LRG_340:g.15536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.879del	ENSP00000435707.3:p.Thr294ProfsTer?
ENST00000526780.6:c.879del	ENSP00000435668.2:p.Thr294ProfsTer?
ENST00000527316.6:c.705del	ENSP00000435047.2:p.Thr236ProfsTer?
ENST00000682708.1:c.930del	ENSP00000506866.1:p.Thr311ProfsTer?
ENST00000682880.1:c.879del	ENSP00000507520.1:p.Thr294ProfsTer29
ENST00000683287.1:c.915del	ENSP00000507607.1:p.Thr306ProfsTer?
ENST00000683714.1:c.879del	ENSP00000508207.1:p.Thr294ProfsTer29
ENST00000684396.1:n.919del
ENST00000685320.1:c.294del	ENSP00000509319.1:p.Thr99ProfsTer?
ENST00000690257.1:c.783del	ENSP00000510750.1:p.Thr262ProfsTer?
ENST00000355527.8:c.879del MANE Select	ENSP00000347717.4:p.Thr294ProfsTer?
ENST00000355527.7:c.879del	ENSP00000347717.3:p.Thr294ProfsTer?
ENST00000407721.6:c.879del	ENSP00000384739.2:p.Thr294ProfsTer?
ENST00000525137.1:c.246del	ENSP00000435956.1:p.Thr83ProfsTer?
ENST00000533800.5:c.129del	ENSP00000435011.1:p.Thr44ProfsTer?
ENST00000534795.5:c.235del
NM_001163817.1:c.879del	NP_001157289.1:p.Thr294ProfsTer?
NM_001360.2:c.879del , LRG_340t1:c.879del	NP_001351.2:p.Thr294ProfsTer?
XM_011544777.1:c.879del	XP_011543079.1:p.Thr294ProfsTer?
XM_011544777.2:c.879del	XP_011543079.1:p.Thr294ProfsTer?
NM_001163817.2:c.879del	NP_001157289.1:p.Thr294ProfsTer?
NM_001360.3:c.879del MANE Select	NP_001351.2:p.Thr294ProfsTer?