Canonical Allele Identifier: CA2631187687

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2278338-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2278341_2278342dup , CM000678.2:g.2278341_2278342dup	GRCh38
NC_000016.9:g.2328342_2328343dup , CM000678.1:g.2328342_2328343dup	GRCh37
NC_000016.8:g.2268343_2268344dup	NCBI36
NG_011790.1:g.67407_67408dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.4666_4667dup MANE Select	ENSP00000301732.5:p.Val1557ProfsTer?
ENST00000301732.9:c.4666_4667dup	ENSP00000301732.5:p.Val1557ProfsTer?
ENST00000382381.7:c.4492_4493dup	ENSP00000371818.3:p.Val1499ProfsTer?
ENST00000566200.1:n.1187_1188dup
NM_001089.2:c.4666_4667dup	NP_001080.2:p.Val1557ProfsTer?
NM_001089.3:c.4666_4667dup MANE Select	NP_001080.2:p.Val1557ProfsTer?