Canonical Allele Identifier: CA2154243551

Gene: EFCAB11

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.89834759_89834760delinsGA , CM000676.2:g.89834759_89834760delinsGA	GRCh38
NC_000014.8:g.90301103_90301104delinsGA , CM000676.1:g.90301103_90301104delinsGA	GRCh37
NC_000014.7:g.89370856_89370857delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000316738.12:c.411-37436_411-37435delinsTC MANE Select	ENSP00000326267.7:n.411-37436_411-37435delinsTC
ENST00000316738.11:c.411-37436_411-37435delinsTC	ENSP00000326267.7:n.411-37436_411-37435delinsTC
ENST00000553871.5:n.457-37436_457-37435delinsTC
ENST00000555608.5:n.492-3544_492-3543delinsTC
ENST00000555872.5:c.339-37436_339-37435delinsTC	ENSP00000452320.1:n.339-37436_339-37435delinsTC
ENST00000556078.1:n.116-35254_116-35253delinsTC
ENST00000556609.5:c.267-37436_267-37435delinsTC	ENSP00000452335.1:n.267-37436_267-37435delinsTC
ENST00000556639.5:c.*584-1583_*584-1582delinsTC	ENSP00000452397.1:n.*584-1583_*584-1582delinsTC
ENST00000557685.5:c.501-37436_501-37435delinsTC	ENSP00000452403.1:n.501-37436_501-37435delinsTC
NM_001284267.1:c.267-37436_267-37435delinsTC	NP_001271196.1:n.267-37436_267-37435delinsTC
NM_001284269.1:c.339-37436_339-37435delinsTC	NP_001271198.1:n.339-37436_339-37435delinsTC
NM_145231.3:c.411-37436_411-37435delinsTC	NP_660274.1:n.411-37436_411-37435delinsTC
NM_145231.4:c.411-37436_411-37435delinsTC MANE Select	NP_660274.1:n.411-37436_411-37435delinsTC
NM_001284269.2:c.339-37436_339-37435delinsTC	NP_001271198.1:n.339-37436_339-37435delinsTC
NM_001284267.2:c.267-37436_267-37435delinsTC	NP_001271196.1:n.267-37436_267-37435delinsTC