Canonical Allele Identifier: CA600051913

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 2137190
• ClinVar RCV Id: RCV003062428
• dbSNP Id: rs1176886263
• gnomAD v2: 11-71148964-CAGA-C
• gnomAD v3: 11-71437918-CAGA-C
• gnomAD v4: 11-71437918-CAGA-C
• MyVariant Identifiers: chr11:g.71148965_71148967del (hg19) ; chr11:g.71437919_71437921del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437924_71437926del , CM000673.2:g.71437924_71437926del	GRCh38
NC_000011.9:g.71148970_71148972del , CM000673.1:g.71148970_71148972del	GRCh37
NC_000011.8:g.70826618_70826620del	NCBI36
NG_012655.2:g.15511_15513del , LRG_340:g.15511_15513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.854_856del	ENSP00000435707.3:p.Phe285del
ENST00000526780.6:c.854_856del	ENSP00000435668.2:p.Phe285del
ENST00000527316.6:c.680_682del	ENSP00000435047.2:p.Phe227del
ENST00000682708.1:c.905_907del	ENSP00000506866.1:p.Phe302del
ENST00000682880.1:c.854_856del	ENSP00000507520.1:p.Phe285del
ENST00000683287.1:c.890_892del	ENSP00000507607.1:p.Phe297del
ENST00000683714.1:c.854_856del	ENSP00000508207.1:p.Phe285del
ENST00000684396.1:n.894_896del
ENST00000685320.1:c.269_271del	ENSP00000509319.1:p.Phe90del
ENST00000690257.1:c.758_760del	ENSP00000510750.1:p.Phe253del
ENST00000355527.8:c.854_856del MANE Select	ENSP00000347717.4:p.Phe285del
ENST00000355527.7:c.854_856del	ENSP00000347717.3:p.Phe285del
ENST00000407721.6:c.854_856del	ENSP00000384739.2:p.Phe285del
ENST00000525137.1:c.221_223del	ENSP00000435956.1:p.Phe74del
ENST00000527316.5:c.758_760del	ENSP00000435047.1:p.Phe253del
ENST00000533800.5:c.104_106del	ENSP00000435011.1:p.Phe35del
ENST00000534795.5:c.210_212del
NM_001163817.1:c.854_856del	NP_001157289.1:p.Phe285del
NM_001360.2:c.854_856del , LRG_340t1:c.854_856del	NP_001351.2:p.Phe285del
XM_011544777.1:c.854_856del	XP_011543079.1:p.Phe285del
XM_011544777.2:c.854_856del	XP_011543079.1:p.Phe285del
NM_001163817.2:c.854_856del	NP_001157289.1:p.Phe285del
NM_001360.3:c.854_856del MANE Select	NP_001351.2:p.Phe285del