Canonical Allele Identifier: CA2202146262

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278379_2278381delinsTGG , CM000678.2:g.2278379_2278381delinsTGG	GRCh38
NC_000016.9:g.2328380_2328382delinsTGG , CM000678.1:g.2328380_2328382delinsTGG	GRCh37
NC_000016.8:g.2268381_2268383delinsTGG	NCBI36
NG_011790.1:g.67366_67368delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4625_4627delinsCCA MANE Select	ENSP00000301732.5:p.Ser1542=
ENST00000301732.9:c.4625_4627delinsCCA	ENSP00000301732.5:p.Ser1542=
ENST00000382381.7:c.4451_4453delinsCCA	ENSP00000371818.3:p.Ser1484=
ENST00000566200.1:n.1146_1148delinsCCA
NM_001089.2:c.4625_4627delinsCCA	NP_001080.2:p.Ser1542=
NM_001089.3:c.4625_4627delinsCCA MANE Select	NP_001080.2:p.Ser1542=