Canonical Allele Identifier: CA2202176726

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2337180_2337181delinsGC , CM000678.2:g.2337180_2337181delinsGC	GRCh38
NC_000016.9:g.2387181_2387182delinsGC , CM000678.1:g.2387181_2387182delinsGC	GRCh37
NC_000016.8:g.2327182_2327183delinsGC	NCBI36
NG_011790.1:g.8566_8567delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.-539+3392_-539+3393delinsGC MANE Select	ENSP00000301732.5:n.-539+3392_-539+3393delinsGC
ENST00000301732.9:c.-539+3392_-539+3393delinsGC	ENSP00000301732.5:n.-539+3392_-539+3393delinsGC
ENST00000382381.7:c.-539+3392_-539+3393delinsGC	ENSP00000371818.3:n.-539+3392_-539+3393delinsGC
ENST00000563623.5:n.25+3392_25+3393delinsGC
NM_001089.2:c.-539+3392_-539+3393delinsGC	NP_001080.2:n.-539+3392_-539+3393delinsGC
NM_001089.3:c.-539+3392_-539+3393delinsGC MANE Select	NP_001080.2:n.-539+3392_-539+3393delinsGC