Canonical Allele Identifier: CA2614639573

Gene: CABP2

Linked Data

• gnomAD v4: 11-67521066-ATGTAGCCCAGGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521067_67521079del , CM000673.2:g.67521067_67521079del	GRCh38
NC_000011.9:g.67288538_67288550del , CM000673.1:g.67288538_67288550del	GRCh37
NC_000011.8:g.67045114_67045126del	NCBI36
NG_032982.1:g.7350_7362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.325_337del MANE Select	ENSP00000294288.4:p.Thr109CysfsTer27
ENST00000545205.2:c.*110_*122del	ENSP00000446180.1:n.*110_*122del
ENST00000636477.1:c.277_289del	ENSP00000490746.1:p.Thr93CysfsTer27
ENST00000294288.4:c.325_337del	ENSP00000294288.4:p.Thr109CysfsTer27
ENST00000353903.9:c.154_166del	ENSP00000312037.4:p.Thr52CysfsTer27
ENST00000545205.1:c.*110_*122del	ENSP00000446180.1:n.*110_*122del
NM_016366.2:c.325_337del	NP_057450.2:p.Thr109CysfsTer27
XM_005274046.1:c.343_355del	XP_005274103.1:p.Thr115CysfsTer27
NM_001318496.1:c.343_355del	NP_001305425.1:p.Thr115CysfsTer27
NM_001318496.2:c.343_355del	NP_001305425.1:p.Thr115CysfsTer27
NM_016366.3:c.325_337del MANE Select	NP_057450.2:p.Thr109CysfsTer27