Canonical Allele Identifier: CA916081589

Gene: VCL

Linked Data

• ClinVar Variation Id: 863815
• ClinVar RCV Id: RCV001070870 ; RCV003283959
• dbSNP Id: rs1840230101
• gnomAD v4: 10-74111985-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74111991del , CM000672.2:g.74111991del	GRCh38
NC_000010.10:g.75871749del , CM000672.1:g.75871749del	GRCh37
NC_000010.9:g.75541755del	NCBI36
NG_008868.1:g.118878del , LRG_383:g.118878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2828del MANE Select	ENSP00000211998.5:p.Pro943LeufsTer13
ENST00000211998.8:c.2828del	ENSP00000211998.4:p.Pro943LeufsTer13
ENST00000372755.7:c.2746-2193del	ENSP00000361841.3:n.2746-2193del
ENST00000436396.1:c.1844del	ENSP00000415489.1:p.Pro615LeufsTer13
ENST00000623461.3:n.5549-2193del
ENST00000624354.3:c.*2583del	ENSP00000485551.1:n.*2583del
NM_003373.3:c.2746-2193del	NP_003364.1:n.2746-2193del
NM_014000.2:c.2828del , LRG_383t1:c.2828del	NP_054706.1:p.Pro943LeufsTer13
XM_005270142.1:c.2831del	XP_005270199.1:p.Pro944LeufsTer13
XM_005270143.1:c.2749-2193del	XP_005270200.1:n.2749-2193del
NM_003373.4:c.2746-2193del	NP_003364.1:n.2746-2193del
NM_014000.3:c.2828del MANE Select	NP_054706.1:p.Pro943LeufsTer13