Canonical Allele Identifier: CA2202146312

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278481_2278482delinsTG , CM000678.2:g.2278481_2278482delinsTG	GRCh38
NC_000016.9:g.2328482_2328483delinsTG , CM000678.1:g.2328482_2328483delinsTG	GRCh37
NC_000016.8:g.2268483_2268484delinsTG	NCBI36
NG_011790.1:g.67265_67266delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-24_4548-23delinsCA MANE Select	ENSP00000301732.5:n.4548-24_4548-23delinsCA
ENST00000301732.9:c.4548-24_4548-23delinsCA	ENSP00000301732.5:n.4548-24_4548-23delinsCA
ENST00000382381.7:c.4374-24_4374-23delinsCA	ENSP00000371818.3:n.4374-24_4374-23delinsCA
ENST00000566200.1:n.1069-24_1069-23delinsCA
NM_001089.2:c.4548-24_4548-23delinsCA	NP_001080.2:n.4548-24_4548-23delinsCA
NM_001089.3:c.4548-24_4548-23delinsCA MANE Select	NP_001080.2:n.4548-24_4548-23delinsCA