Canonical Allele Identifier: CA594709434

Gene: VCL

Linked Data

• dbSNP Id: rs1344046736
• gnomAD v2: 10-75871896-G-GGCT
• gnomAD v4: 10-74112138-G-GGCT
• MyVariant Identifiers: chr10:g.75871896_75871897insGCT (hg19) ; chr10:g.74112138_74112139insGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74112142_74112144dup , CM000672.2:g.74112142_74112144dup	GRCh38
NC_000010.10:g.75871900_75871902dup , CM000672.1:g.75871900_75871902dup	GRCh37
NC_000010.9:g.75541906_75541908dup	NCBI36
NG_008868.1:g.119029_119031dup , LRG_383:g.119029_119031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2949+30_2949+32dup MANE Select	ENSP00000211998.5:n.2949+30_2949+32dup
ENST00000211998.8:c.2949+30_2949+32dup	ENSP00000211998.4:n.2949+30_2949+32dup
ENST00000372755.7:c.2746-2042_2746-2040dup	ENSP00000361841.3:n.2746-2042_2746-2040dup
ENST00000436396.1:c.1965+30_1965+32dup	ENSP00000415489.1:n.1965+30_1965+32dup
ENST00000623461.3:n.5549-2042_5549-2040dup
ENST00000624354.3:c.*2704+30_*2704+32dup	ENSP00000485551.1:n.*2704+30_*2704+32dup
NM_003373.3:c.2746-2042_2746-2040dup	NP_003364.1:n.2746-2042_2746-2040dup
NM_014000.2:c.2949+30_2949+32dup , LRG_383t1:c.2949+30_2949+32dup	NP_054706.1:n.2949+30_2949+32dup
XM_005270142.1:c.2952+30_2952+32dup	XP_005270199.1:n.2952+30_2952+32dup
XM_005270143.1:c.2749-2042_2749-2040dup	XP_005270200.1:n.2749-2042_2749-2040dup
NM_003373.4:c.2746-2042_2746-2040dup	NP_003364.1:n.2746-2042_2746-2040dup
NM_014000.3:c.2949+30_2949+32dup MANE Select	NP_054706.1:n.2949+30_2949+32dup