Canonical Allele Identifier: CA6318210

Gene: CBL

Linked Data

• dbSNP Id: rs763597220
• ExAC: 11:119077148 G / GAGCTCTGGGGCCGGGGGCGGCAGC
• gnomAD v2: 11-119077148-G-GAGCTCTGGGGCCGGGGGCGGCAGC
• gnomAD v4: 11-119206438-G-GAGCTCTGGGGCCGGGGGCGGCAGC
• MyVariant Identifiers: chr11:g.119077148_119077149insAGCTCTGGGGCCGGGGGCGGCAGC (hg19) ; chr11:g.119206438_119206439insAGCTCTGGGGCCGGGGGCGGCAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206439_119206462dup , CM000673.2:g.119206439_119206462dup	GRCh38
NC_000011.9:g.119077149_119077172dup , CM000673.1:g.119077149_119077172dup	GRCh37
NC_000011.8:g.118582359_118582382dup	NCBI36
NG_016808.1:g.5160_5183dup , LRG_608:g.5160_5183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.22_45dup	ENSP00000515005.1:p.Ser15_Gly16insSerSerGlyAlaGlyGlyGlySer
ENST00000264033.6:c.22_45dup MANE Select	ENSP00000264033.3:p.Ser15_Gly16insSerSerGlyAlaGlyGlyGlySer
ENST00000637974.1:c.16_39dup	ENSP00000490763.1:p.Ser13_Gly14insSerSerGlyAlaGlyGlyGlySer
ENST00000264033.5:c.22_45dup	ENSP00000264033.3:p.Ser15_Gly16insSerSerGlyAlaGlyGlyGlySer
ENST00000634586.1:c.22_45dup	ENSP00000489218.1:p.Ser15_Gly16insSerSerGlyAlaGlyGlyGlySer
ENST00000634840.1:c.22_45dup	ENSP00000489324.1:p.Ser15_Gly16insSerSerGlyAlaGlyGlyGlySer
NM_005188.3:c.22_45dup , LRG_608t1:c.22_45dup	NP_005179.2:p.Ser15_Gly16insSerSerGlyAlaGlyGlyGlySer
XM_011543057.1:c.22_45dup	XP_011541359.1:p.Ser15_Gly16insSerSerGlyAlaGlyGlyGlySer
NM_005188.4:c.22_45dup MANE Select	NP_005179.2:p.Ser15_Gly16insSerSerGlyAlaGlyGlyGlySer