Canonical Allele Identifier: CA973783406

Gene: ABCA3

Linked Data

• dbSNP Id: rs2093650137
• gnomAD v3: 16-2278485-GGAA-G
• gnomAD v4: 16-2278485-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278486_2278488del , CM000678.2:g.2278486_2278488del	GRCh38
NC_000016.9:g.2328487_2328489del , CM000678.1:g.2328487_2328489del	GRCh37
NC_000016.8:g.2268488_2268490del	NCBI36
NG_011790.1:g.67259_67261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4548-30_4548-28del MANE Select	ENSP00000301732.5:n.4548-30_4548-28del
ENST00000301732.9:c.4548-30_4548-28del	ENSP00000301732.5:n.4548-30_4548-28del
ENST00000382381.7:c.4374-30_4374-28del	ENSP00000371818.3:n.4374-30_4374-28del
ENST00000566200.1:n.1069-30_1069-28del
NM_001089.2:c.4548-30_4548-28del	NP_001080.2:n.4548-30_4548-28del
NM_001089.3:c.4548-30_4548-28del MANE Select	NP_001080.2:n.4548-30_4548-28del