Canonical Allele Identifier: CA2631188320

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2278512-T-TCCCATGTCCCAGTGGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278516_2278533dup , CM000678.2:g.2278516_2278533dup	GRCh38
NC_000016.9:g.2328517_2328534dup , CM000678.1:g.2328517_2328534dup	GRCh37
NC_000016.8:g.2268518_2268535dup	NCBI36
NG_011790.1:g.67217_67234dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-72_4548-55dup MANE Select	ENSP00000301732.5:n.4548-72_4548-55dup
ENST00000301732.9:c.4548-72_4548-55dup	ENSP00000301732.5:n.4548-72_4548-55dup
ENST00000382381.7:c.4374-72_4374-55dup	ENSP00000371818.3:n.4374-72_4374-55dup
ENST00000566200.1:n.1069-72_1069-55dup
NM_001089.2:c.4548-72_4548-55dup	NP_001080.2:n.4548-72_4548-55dup
NM_001089.3:c.4548-72_4548-55dup MANE Select	NP_001080.2:n.4548-72_4548-55dup