Canonical Allele Identifier: CA2202146327

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278495_2278497delinsTGA , CM000678.2:g.2278495_2278497delinsTGA	GRCh38
NC_000016.9:g.2328496_2328498delinsTGA , CM000678.1:g.2328496_2328498delinsTGA	GRCh37
NC_000016.8:g.2268497_2268499delinsTGA	NCBI36
NG_011790.1:g.67250_67252delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-39_4548-37delinsTCA MANE Select	ENSP00000301732.5:n.4548-39_4548-37delinsTCA
ENST00000301732.9:c.4548-39_4548-37delinsTCA	ENSP00000301732.5:n.4548-39_4548-37delinsTCA
ENST00000382381.7:c.4374-39_4374-37delinsTCA	ENSP00000371818.3:n.4374-39_4374-37delinsTCA
ENST00000566200.1:n.1069-39_1069-37delinsTCA
NM_001089.2:c.4548-39_4548-37delinsTCA	NP_001080.2:n.4548-39_4548-37delinsTCA
NM_001089.3:c.4548-39_4548-37delinsTCA MANE Select	NP_001080.2:n.4548-39_4548-37delinsTCA