Canonical Allele Identifier: CA2616384003

Gene: CBL

Linked Data

• gnomAD v4: 11-119206454-G-GGCGGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206460_119206465dup , CM000673.2:g.119206460_119206465dup	GRCh38
NC_000011.9:g.119077170_119077175dup , CM000673.1:g.119077170_119077175dup	GRCh37
NC_000011.8:g.118582380_118582385dup	NCBI36
NG_016808.1:g.5181_5186dup , LRG_608:g.5181_5186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.43_48dup	ENSP00000515005.1:p.Gly16_Ser17insSerGly
ENST00000264033.6:c.43_48dup MANE Select	ENSP00000264033.3:p.Gly16_Ser17insSerGly
ENST00000637974.1:c.37_42dup	ENSP00000490763.1:p.Gly14_Ser15insSerGly
ENST00000264033.5:c.43_48dup	ENSP00000264033.3:p.Gly16_Ser17insSerGly
ENST00000634586.1:c.43_48dup	ENSP00000489218.1:p.Gly16_Ser17insSerGly
ENST00000634840.1:c.43_48dup	ENSP00000489324.1:p.Gly16_Ser17insSerGly
NM_005188.3:c.43_48dup , LRG_608t1:c.43_48dup	NP_005179.2:p.Gly16_Ser17insSerGly
XM_011543057.1:c.43_48dup	XP_011541359.1:p.Gly16_Ser17insSerGly
NM_005188.4:c.43_48dup MANE Select	NP_005179.2:p.Gly16_Ser17insSerGly