Canonical Allele Identifier: CA2202165370

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093713168

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315206_2315207insGACA , CM000678.2:g.2315206_2315207insGACA	GRCh38
NC_000016.9:g.2365207_2365208insGACA , CM000678.1:g.2365207_2365208insGACA	GRCh37
NC_000016.8:g.2305208_2305209insGACA	NCBI36
NG_011790.1:g.30543_30544insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1111+2079_1111+2080insCTGT MANE Select	ENSP00000301732.5:n.1111+2079_1111+2080insCTGT
ENST00000301732.9:c.1111+2079_1111+2080insCTGT	ENSP00000301732.5:n.1111+2079_1111+2080insCTGT
ENST00000382381.7:c.1111+2079_1111+2080insCTGT	ENSP00000371818.3:n.1111+2079_1111+2080insCTGT
ENST00000563623.5:n.1674+2079_1674+2080insCTGT
NM_001089.2:c.1111+2079_1111+2080insCTGT	NP_001080.2:n.1111+2079_1111+2080insCTGT
NM_001089.3:c.1111+2079_1111+2080insCTGT MANE Select	NP_001080.2:n.1111+2079_1111+2080insCTGT