Canonical Allele Identifier: CA557411207

Gene: CMBL

Linked Data

• dbSNP Id: rs1561062097
• gnomAD v2: 5-10286472-C-CG
• gnomAD v4: 5-10286360-C-CG
• MyVariant Identifiers: chr5:g.10286472_10286473insG (hg19) ; chr5:g.10286360_10286361insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10286362dup , CM000667.2:g.10286362dup	GRCh38
NC_000005.9:g.10286474dup , CM000667.1:g.10286474dup	GRCh37
NC_000005.8:g.10339474dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296658.4:c.459dup MANE Select	ENSP00000296658.3:p.Val154ArgfsTer9
ENST00000296658.3:c.459dup	ENSP00000296658.3:p.Val154ArgfsTer9
ENST00000506821.1:n.713dup
ENST00000510532.5:n.527dup
ENST00000511963.5:n.567dup
NM_138809.3:c.459dup	NP_620164.1:p.Val154ArgfsTer9
NM_138809.4:c.459dup MANE Select	NP_620164.1:p.Val154ArgfsTer9