Canonical Allele Identifier: CA2805586497

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2289415_2289416insCCCCCCCAGGGC , CM000678.2:g.2289415_2289416insCCCCCCCAGGGC	GRCh38
NC_000016.9:g.2339416_2339417insCCCCCCCAGGGC , CM000678.1:g.2339416_2339417insCCCCCCCAGGGC	GRCh37
NC_000016.8:g.2279417_2279418insCCCCCCCAGGGC	NCBI36
NG_011790.1:g.56332_56333insCCCTGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.2700+19_2700+20insCCCTGGGGGGGG MANE Select	ENSP00000301732.5:n.2700+19_2700+20insCCCTGGGGGGGG
ENST00000301732.9:c.2700+19_2700+20insCCCTGGGGGGGG	ENSP00000301732.5:n.2700+19_2700+20insCCCTGGGGGGGG
ENST00000382381.7:c.2526+19_2526+20insCCCTGGGGGGGG	ENSP00000371818.3:n.2526+19_2526+20insCCCTGGGGGGGG
ENST00000563623.5:n.3282_3283insCCCTGGGGGGGG
NM_001089.2:c.2700+19_2700+20insCCCTGGGGGGGG	NP_001080.2:n.2700+19_2700+20insCCCTGGGGGGGG
NM_001089.3:c.2700+19_2700+20insCCCTGGGGGGGG MANE Select	NP_001080.2:n.2700+19_2700+20insCCCTGGGGGGGG