Canonical Allele Identifier: CA2616383873

Gene: CBL

Linked Data

• gnomAD v4: 11-119206444-T-TGGGGCCGGGGGCGGCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206447_119206464dup , CM000673.2:g.119206447_119206464dup	GRCh38
NC_000011.9:g.119077157_119077174dup , CM000673.1:g.119077157_119077174dup	GRCh37
NC_000011.8:g.118582367_118582384dup	NCBI36
NG_016808.1:g.5168_5185dup , LRG_608:g.5168_5185dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.30_47dup	ENSP00000515005.1:p.Gly16_Ser17insAlaGlyGlyGlySerGly
ENST00000264033.6:c.30_47dup MANE Select	ENSP00000264033.3:p.Gly16_Ser17insAlaGlyGlyGlySerGly
ENST00000637974.1:c.24_41dup	ENSP00000490763.1:p.Gly14_Ser15insAlaGlyGlyGlySerGly
ENST00000264033.5:c.30_47dup	ENSP00000264033.3:p.Gly16_Ser17insAlaGlyGlyGlySerGly
ENST00000634586.1:c.30_47dup	ENSP00000489218.1:p.Gly16_Ser17insAlaGlyGlyGlySerGly
ENST00000634840.1:c.30_47dup	ENSP00000489324.1:p.Gly16_Ser17insAlaGlyGlyGlySerGly
NM_005188.3:c.30_47dup , LRG_608t1:c.30_47dup	NP_005179.2:p.Gly16_Ser17insAlaGlyGlyGlySerGly
XM_011543057.1:c.30_47dup	XP_011541359.1:p.Gly16_Ser17insAlaGlyGlyGlySerGly
NM_005188.4:c.30_47dup MANE Select	NP_005179.2:p.Gly16_Ser17insAlaGlyGlyGlySerGly