Canonical Allele Identifier: CA939062897

Gene: CABP2

Linked Data

• gnomAD v3: 11-67521063-G-GTC
• gnomAD v4: 11-67521063-G-GTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521063_67521064insTC , CM000673.2:g.67521063_67521064insTC	GRCh38
NC_000011.9:g.67288534_67288535insTC , CM000673.1:g.67288534_67288535insTC	GRCh37
NC_000011.8:g.67045110_67045111insTC	NCBI36
NG_032982.1:g.7365_7366insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.340_341insGA MANE Select	ENSP00000294288.4:p.Pro114ArgfsTer27
ENST00000545205.2:c.*125_*126insGA	ENSP00000446180.1:n.*125_*126insGA
ENST00000636477.1:c.292_293insGA	ENSP00000490746.1:p.Pro98ArgfsTer27
ENST00000294288.4:c.340_341insGA	ENSP00000294288.4:p.Pro114ArgfsTer27
ENST00000353903.9:c.169_170insGA	ENSP00000312037.4:p.Pro57ArgfsTer27
ENST00000545205.1:c.*125_*126insGA	ENSP00000446180.1:n.*125_*126insGA
NM_016366.2:c.340_341insGA	NP_057450.2:p.Pro114ArgfsTer27
XM_005274046.1:c.358_359insGA	XP_005274103.1:p.Pro120ArgfsTer27
NM_001318496.1:c.358_359insGA	NP_001305425.1:p.Pro120ArgfsTer27
NM_001318496.2:c.358_359insGA	NP_001305425.1:p.Pro120ArgfsTer27
NM_016366.3:c.340_341insGA MANE Select	NP_057450.2:p.Pro114ArgfsTer27