Canonical Allele Identifier: CA5563318

Gene: VCL

Linked Data

• ClinVar Variation Id: 1426741
• ClinVar RCV Id: RCV001949800 ; RCV003355662
• dbSNP Id: rs750347797
• ExAC: 10:75871749 CT / C
• gnomAD v2: 10-75871749-CT-C
• gnomAD v3: 10-74111991-CT-C
• gnomAD v4: 10-74111991-CT-C
• MyVariant Identifiers: chr10:g.75871750del (hg19) ; chr10:g.74111992del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74111992del , CM000672.2:g.74111992del	GRCh38
NC_000010.10:g.75871750del , CM000672.1:g.75871750del	GRCh37
NC_000010.9:g.75541756del	NCBI36
NG_008868.1:g.118879del , LRG_383:g.118879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2829del MANE Select	ENSP00000211998.5:p.Asp944ThrfsTer12
ENST00000211998.8:c.2829del	ENSP00000211998.4:p.Asp944ThrfsTer12
ENST00000372755.7:c.2746-2192del	ENSP00000361841.3:n.2746-2192del
ENST00000436396.1:c.1845del	ENSP00000415489.1:p.Asp616ThrfsTer12
ENST00000623461.3:n.5549-2192del
ENST00000624354.3:c.*2584del	ENSP00000485551.1:n.*2584del
NM_003373.3:c.2746-2192del	NP_003364.1:n.2746-2192del
NM_014000.2:c.2829del , LRG_383t1:c.2829del	NP_054706.1:p.Asp944ThrfsTer12
XM_005270142.1:c.2832del	XP_005270199.1:p.Asp945ThrfsTer12
XM_005270143.1:c.2749-2192del	XP_005270200.1:n.2749-2192del
NM_003373.4:c.2746-2192del	NP_003364.1:n.2746-2192del
NM_014000.3:c.2829del MANE Select	NP_054706.1:p.Asp944ThrfsTer12