Canonical Allele Identifier: CA2631188234

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2278470-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278473del , CM000678.2:g.2278473del	GRCh38
NC_000016.9:g.2328474del , CM000678.1:g.2328474del	GRCh37
NC_000016.8:g.2268475del	NCBI36
NG_011790.1:g.67276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-13del MANE Select	ENSP00000301732.5:n.4548-13del
ENST00000301732.9:c.4548-13del	ENSP00000301732.5:n.4548-13del
ENST00000382381.7:c.4374-13del	ENSP00000371818.3:n.4374-13del
ENST00000566200.1:n.1069-13del
NM_001089.2:c.4548-13del	NP_001080.2:n.4548-13del
NM_001089.3:c.4548-13del MANE Select	NP_001080.2:n.4548-13del