Canonical Allele Identifier: CA2575882239

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278318_2278319del , CM000678.2:g.2278318_2278319del	GRCh38
NC_000016.9:g.2328319_2328320del , CM000678.1:g.2328319_2328320del	GRCh37
NC_000016.8:g.2268320_2268321del	NCBI36
NG_011790.1:g.67429_67430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4688_4689del MANE Select	ENSP00000301732.5:p.Ser1563TrpfsTer15
ENST00000301732.9:c.4688_4689del	ENSP00000301732.5:p.Ser1563TrpfsTer15
ENST00000382381.7:c.4514_4515del	ENSP00000371818.3:p.Ser1505TrpfsTer15
ENST00000566200.1:n.1209_1210del
NM_001089.2:c.4688_4689del	NP_001080.2:p.Ser1563TrpfsTer15
NM_001089.3:c.4688_4689del MANE Select	NP_001080.2:p.Ser1563TrpfsTer15