Canonical Allele Identifier: CA2003906004

Gene: CBL MCAM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119310953_119310959dup , CM000673.2:g.119310953_119310959dup	GRCh38
NC_000011.9:g.119181663_119181669dup , CM000673.1:g.119181663_119181669dup	GRCh37
NC_000011.8:g.118686873_118686879dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006500.3:c.1646-56_1646-50dup (MCAM) MANE Select	NP_006491.2:n.1646-56_1646-50dup
ENST00000264036.6:c.1646-56_1646-50dup (MCAM) MANE Select	ENSP00000264036.4:n.1646-56_1646-50dup
NM_006500.2:c.1646-56_1646-50dup (MCAM)	NP_006491.2:n.1646-56_1646-50dup
ENST00000264036.5:c.1646-56_1646-50dup (MCAM)	ENSP00000264036.4:n.1646-56_1646-50dup
ENST00000524940.5:n.30-56_30-50dup (MCAM)
ENST00000525586.5:n.3731_3737dup (MCAM)
ENST00000528533.5:n.1899_1905dup (MCAM)
ENST00000528976.1:n.199-56_199-50dup (MCAM)
ENST00000637974.1:c.2522-2465_2522-2459dup (CBL)	ENSP00000490763.1:n.2522-2465_2522-2459dup
ENST00000700472.1:c.*1980-2465_*1980-2459dup (CBL)	ENSP00000515005.1:n.*1980-2465_*1980-2459dup
XM_017017759.2:c.1583-56_1583-50dup (MCAM)	XP_016873248.1:n.1583-56_1583-50dup
XM_017017760.2:c.1550-56_1550-50dup (MCAM)	XP_016873249.1:n.1550-56_1550-50dup
XM_017017761.2:c.1646-56_1646-50dup (MCAM)	XP_016873250.1:n.1646-56_1646-50dup
XM_017017762.2:c.1583-56_1583-50dup (MCAM)	XP_016873251.1:n.1583-56_1583-50dup