Canonical Allele Identifier: CA939062899

Gene: CABP2

Linked Data

• gnomAD v3: 11-67521065-CAT-C
• gnomAD v4: 11-67521065-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521066_67521067del , CM000673.2:g.67521066_67521067del	GRCh38
NC_000011.9:g.67288537_67288538del , CM000673.1:g.67288537_67288538del	GRCh37
NC_000011.8:g.67045113_67045114del	NCBI36
NG_032982.1:g.7362_7363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.337_338del MANE Select	ENSP00000294288.4:p.Met113AlafsTer21
ENST00000545205.2:c.*122_*123del	ENSP00000446180.1:n.*122_*123del
ENST00000636477.1:c.289_290del	ENSP00000490746.1:p.Met97AlafsTer21
ENST00000294288.4:c.337_338del	ENSP00000294288.4:p.Met113AlafsTer21
ENST00000353903.9:c.166_167del	ENSP00000312037.4:p.Met56AlafsTer21
ENST00000545205.1:c.*122_*123del	ENSP00000446180.1:n.*122_*123del
NM_016366.2:c.337_338del	NP_057450.2:p.Met113AlafsTer21
XM_005274046.1:c.355_356del	XP_005274103.1:p.Met119AlafsTer21
NM_001318496.1:c.355_356del	NP_001305425.1:p.Met119AlafsTer21
NM_001318496.2:c.355_356del	NP_001305425.1:p.Met119AlafsTer21
NM_016366.3:c.337_338del MANE Select	NP_057450.2:p.Met113AlafsTer21