Canonical Allele Identifier: CA2202165356

Gene: ABCA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2315196_2315199delinsTGTA , CM000678.2:g.2315196_2315199delinsTGTA	GRCh38
NC_000016.9:g.2365197_2365200delinsTGTA , CM000678.1:g.2365197_2365200delinsTGTA	GRCh37
NC_000016.8:g.2305198_2305201delinsTGTA	NCBI36
NG_011790.1:g.30548_30551delinsTACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.1111+2084_1111+2087delinsTACA MANE Select	ENSP00000301732.5:n.1111+2084_1111+2087de...
ENST00000301732.9:c.1111+2084_1111+2087delinsTACA	ENSP00000301732.5:n.1111+2084_1111+2087de...
ENST00000382381.7:c.1111+2084_1111+2087delinsTACA	ENSP00000371818.3:n.1111+2084_1111+2087de...
ENST00000563623.5:n.1674+2084_1674+2087delinsTACA
NM_001089.2:c.1111+2084_1111+2087delinsTACA	NP_001080.2:n.1111+2084_1111+2087delinsTA...
NM_001089.3:c.1111+2084_1111+2087delinsTACA MANE Select	NP_001080.2:n.1111+2084_1111+2087delinsTA...