Canonical Allele Identifier: CA6162323

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 370598
• ClinVar RCV Id: RCV000409736 ; RCV003897827
• dbSNP Id: rs774291653
• ExAC: 11:71146782 TG / T
• gnomAD v2: 11-71146782-TG-T
• gnomAD v3: 11-71435736-TG-T
• gnomAD v4: 11-71435736-TG-T
• MyVariant Identifiers: chr11:g.71146783del (hg19) ; chr11:g.71435737del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435738del , CM000673.2:g.71435738del	GRCh38
NC_000011.9:g.71146784del , CM000673.1:g.71146784del	GRCh37
NC_000011.8:g.70824432del	NCBI36
NG_012655.2:g.17695del , LRG_340:g.17695del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525346.6:c.1066del	ENSP00000435707.3:p.His356ThrfsTer?
ENST00000526780.6:c.1066del	ENSP00000435668.2:p.His356ThrfsTer?
ENST00000527316.6:c.892del	ENSP00000435047.2:p.His298ThrfsTer?
ENST00000682708.1:c.1117del	ENSP00000506866.1:p.His373ThrfsTer?
ENST00000683287.1:c.1102del	ENSP00000507607.1:p.His368ThrfsTer?
ENST00000683714.1:c.1074del	ENSP00000508207.1:p.Thr359ProfsTer?
ENST00000684396.1:n.1106del
ENST00000685320.1:c.481del	ENSP00000509319.1:p.His161ThrfsTer?
ENST00000690257.1:c.970del	ENSP00000510750.1:p.His324ThrfsTer?
ENST00000355527.8:c.1066del MANE Select	ENSP00000347717.4:p.His356ThrfsTer?
ENST00000355527.7:c.1066del	ENSP00000347717.3:p.His356ThrfsTer?
ENST00000407721.6:c.1066del	ENSP00000384739.2:p.His356ThrfsTer?
ENST00000525137.1:c.567del	ENSP00000435956.1:p.Thr190ProfsTer?
ENST00000533800.5:c.316del	ENSP00000435011.1:p.His106ThrfsTer?
ENST00000534795.5:c.319+2075del
NM_001163817.1:c.1066del	NP_001157289.1:p.His356ThrfsTer?
NM_001360.2:c.1066del , LRG_340t1:c.1066del	NP_001351.2:p.His356ThrfsTer?
XM_011544777.1:c.1200del	XP_011543079.1:p.Thr401ProfsTer?
XM_011544777.2:c.1200del	XP_011543079.1:p.Thr401ProfsTer?
NM_001163817.2:c.1066del	NP_001157289.1:p.His356ThrfsTer?
NM_001360.3:c.1066del MANE Select	NP_001351.2:p.His356ThrfsTer?