Canonical Allele Identifier: CA2616387253

Gene: CBL

Linked Data

• gnomAD v4: 11-119277861-A-ATTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119277862_119277863insTATT , CM000673.2:g.119277862_119277863insTATT	GRCh38
NC_000011.9:g.119148572_119148573insTATT , CM000673.1:g.119148572_119148573insTATT	GRCh37
NC_000011.8:g.118653782_118653783insTATT	NCBI36
NG_016808.1:g.76583_76584insTATT , LRG_608:g.76583_76584insTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*547+18_*547+19insTATT	ENSP00000515005.1:n.*547+18_*547+19insTATT
ENST00000264033.6:c.1095+18_1095+19insTATT MANE Select	ENSP00000264033.3:n.1095+18_1095+19insTATT
ENST00000637974.1:c.1089+18_1089+19insTATT	ENSP00000490763.1:n.1089+18_1089+19insTATT
ENST00000264033.5:c.1095+18_1095+19insTATT	ENSP00000264033.3:n.1095+18_1095+19insTATT
ENST00000634586.1:c.1095+18_1095+19insTATT	ENSP00000489218.1:n.1095+18_1095+19insTATT
ENST00000634840.1:c.1095+18_1095+19insTATT	ENSP00000489324.1:n.1095+18_1095+19insTATT
NM_005188.3:c.1095+18_1095+19insTATT , LRG_608t1:c.1095+18_1095+19insTATT	NP_005179.2:n.1095+18_1095+19insTATT
XM_011543057.1:c.1095+18_1095+19insTATT	XP_011541359.1:n.1095+18_1095+19insTATT
NM_005188.4:c.1095+18_1095+19insTATT MANE Select	NP_005179.2:n.1095+18_1095+19insTATT