Canonical Allele Identifier: CA2731762997

Gene: ABCA3

Linked Data

• dbSNP Id: rs2141688281

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278566_2278568del , CM000678.2:g.2278566_2278568del	GRCh38
NC_000016.9:g.2328567_2328569del , CM000678.1:g.2328567_2328569del	GRCh37
NC_000016.8:g.2268568_2268570del	NCBI36
NG_011790.1:g.67180_67182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-109_4548-107del MANE Select	ENSP00000301732.5:n.4548-109_4548-107del
ENST00000301732.9:c.4548-109_4548-107del	ENSP00000301732.5:n.4548-109_4548-107del
ENST00000382381.7:c.4374-109_4374-107del	ENSP00000371818.3:n.4374-109_4374-107del
ENST00000566200.1:n.1069-109_1069-107del
NM_001089.2:c.4548-109_4548-107del	NP_001080.2:n.4548-109_4548-107del
NM_001089.3:c.4548-109_4548-107del MANE Select	NP_001080.2:n.4548-109_4548-107del