Canonical Allele Identifier: CA2631186980

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2277851-A-AGTGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2277852_2277858dup , CM000678.2:g.2277852_2277858dup	GRCh38
NC_000016.9:g.2327853_2327859dup , CM000678.1:g.2327853_2327859dup	GRCh37
NC_000016.8:g.2267854_2267860dup	NCBI36
NG_011790.1:g.67889_67895dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.4909+21_4909+27dup MANE Select	ENSP00000301732.5:n.4909+21_4909+27dup
ENST00000301732.9:c.4909+21_4909+27dup	ENSP00000301732.5:n.4909+21_4909+27dup
ENST00000382381.7:c.4735+21_4735+27dup	ENSP00000371818.3:n.4735+21_4735+27dup
NM_001089.2:c.4909+21_4909+27dup	NP_001080.2:n.4909+21_4909+27dup
NM_001089.3:c.4909+21_4909+27dup MANE Select	NP_001080.2:n.4909+21_4909+27dup