Canonical Allele Identifier: CA2616387334

Gene: CBL

Linked Data

• gnomAD v4: 11-119277943-ACTAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119277944_119277947del , CM000673.2:g.119277944_119277947del	GRCh38
NC_000011.9:g.119148654_119148657del , CM000673.1:g.119148654_119148657del	GRCh37
NC_000011.8:g.118653864_118653867del	NCBI36
NG_016808.1:g.76665_76668del , LRG_608:g.76665_76668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*547+100_*547+103del	ENSP00000515005.1:n.*547+100_*547+103del
ENST00000264033.6:c.1095+100_1095+103del MANE Select	ENSP00000264033.3:n.1095+100_1095+103del
ENST00000637974.1:c.1089+100_1089+103del	ENSP00000490763.1:n.1089+100_1089+103del
ENST00000264033.5:c.1095+100_1095+103del	ENSP00000264033.3:n.1095+100_1095+103del
ENST00000634586.1:c.1095+100_1095+103del	ENSP00000489218.1:n.1095+100_1095+103del
ENST00000634840.1:c.1095+100_1095+103del	ENSP00000489324.1:n.1095+100_1095+103del
NM_005188.3:c.1095+100_1095+103del , LRG_608t1:c.1095+100_1095+103del	NP_005179.2:n.1095+100_1095+103del
XM_011543057.1:c.1095+100_1095+103del	XP_011541359.1:n.1095+100_1095+103del
NM_005188.4:c.1095+100_1095+103del MANE Select	NP_005179.2:n.1095+100_1095+103del