Canonical Allele Identifier: CA5562754

Gene: VCL

Linked Data

• dbSNP Id: rs748367312
• ExAC: 10:75830625 AGATT / A
• gnomAD v2: 10-75830625-AGATT-A
• gnomAD v3: 10-74070867-AGATT-A
• gnomAD v4: 10-74070867-AGATT-A
• MyVariant Identifiers: chr10:g.75830626_75830629del (hg19) ; chr10:g.74070868_74070871del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74070871_74070874del , CM000672.2:g.74070871_74070874del	GRCh38
NC_000010.10:g.75830629_75830632del , CM000672.1:g.75830629_75830632del	GRCh37
NC_000010.9:g.75500635_75500638del	NCBI36
NG_008868.1:g.77758_77761del , LRG_383:g.77758_77761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.390+51_390+54del MANE Select	ENSP00000211998.5:n.390+51_390+54del
ENST00000211998.8:c.390+51_390+54del	ENSP00000211998.4:n.390+51_390+54del
ENST00000372755.7:c.390+51_390+54del	ENSP00000361841.3:n.390+51_390+54del
ENST00000478896.2:n.331+27718_331+27721del
ENST00000623461.3:n.348+51_348+54del
ENST00000624354.3:c.*145+51_*145+54del	ENSP00000485551.1:n.*145+51_*145+54del
NM_003373.3:c.390+51_390+54del	NP_003364.1:n.390+51_390+54del
NM_014000.2:c.390+51_390+54del , LRG_383t1:c.390+51_390+54del	NP_054706.1:n.390+51_390+54del
XM_005270142.1:c.390+51_390+54del	XP_005270199.1:n.390+51_390+54del
XM_005270143.1:c.390+51_390+54del	XP_005270200.1:n.390+51_390+54del
NM_003373.4:c.390+51_390+54del	NP_003364.1:n.390+51_390+54del
NM_014000.3:c.390+51_390+54del MANE Select	NP_054706.1:n.390+51_390+54del