Canonical Allele Identifier: CA2530727313

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278332_2278333del , CM000678.2:g.2278332_2278333del	GRCh38
NC_000016.9:g.2328333_2328334del , CM000678.1:g.2328333_2328334del	GRCh37
NC_000016.8:g.2268334_2268335del	NCBI36
NG_011790.1:g.67415_67416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4674_4675del MANE Select	ENSP00000301732.5:p.Arg1559SerfsTer19
ENST00000301732.9:c.4674_4675del	ENSP00000301732.5:p.Arg1559SerfsTer19
ENST00000382381.7:c.4500_4501del	ENSP00000371818.3:p.Arg1501SerfsTer19
ENST00000566200.1:n.1195_1196del
NM_001089.2:c.4674_4675del	NP_001080.2:p.Arg1559SerfsTer19
NM_001089.3:c.4674_4675del MANE Select	NP_001080.2:p.Arg1559SerfsTer19