Canonical Allele Identifier: CA2805588045

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337187del , CM000678.2:g.2337187del	GRCh38
NC_000016.9:g.2387188del , CM000678.1:g.2387188del	GRCh37
NC_000016.8:g.2327189del	NCBI36
NG_011790.1:g.8560del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.-539+3386del MANE Select	ENSP00000301732.5:n.-539+3386del
ENST00000301732.9:c.-539+3386del	ENSP00000301732.5:n.-539+3386del
ENST00000382381.7:c.-539+3386del	ENSP00000371818.3:n.-539+3386del
ENST00000563623.5:n.25+3386del
NM_001089.2:c.-539+3386del	NP_001080.2:n.-539+3386del
NM_001089.3:c.-539+3386del MANE Select	NP_001080.2:n.-539+3386del