Canonical Allele Identifier: CA2622928116

Gene: CPB2 CPB2-AS1

Linked Data

• gnomAD v4: 13-46055809-ATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46055811_46055813del , CM000675.2:g.46055811_46055813del	GRCh38
NC_000013.10:g.46629946_46629948del , CM000675.1:g.46629946_46629948del	GRCh37
NC_000013.9:g.45527947_45527949del	NCBI36
NG_032893.1:g.54265_54267del
NG_032893.2:g.54222_54224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000181383.10:c.1037_1039del (CPB2) MANE Select	ENSP00000181383.4:p.Lys346del
ENST00000439329.5:c.926_928del (CPB2)	ENSP00000400714.3:p.Lys309del
ENST00000675730.1:c.*169_*171del (CPB2)	ENSP00000502038.1:n.*169_*171del
ENST00000181383.8:c.1037_1039del (CPB2)	ENSP00000181383.4:p.Lys346del
ENST00000439329.4:c.926_928del (CPB2)	ENSP00000400714.3:p.Lys309del
NM_001278541.1:c.926_928del (CPB2)	NP_001265470.1:p.Lys309del
NM_001872.4:c.1037_1039del (CPB2)	NP_001863.3:p.Lys346del
NR_046226.1:n.118+2846_118+2848del (CPB2-AS1)
NR_046227.1:n.118+2846_118+2848del (CPB2-AS1)
XM_017020393.2:c.1010_1012del (CPB2)	XP_016875882.1:p.Lys337del
NM_001872.5:c.1037_1039del (CPB2) MANE Select	NP_001863.3:p.Lys346del
NM_001278541.2:c.926_928del (CPB2)	NP_001265470.1:p.Lys309del