Canonical Allele Identifier: CA2631186941

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2277832-AGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2277833_2277836del , CM000678.2:g.2277833_2277836del	GRCh38
NC_000016.9:g.2327834_2327837del , CM000678.1:g.2327834_2327837del	GRCh37
NC_000016.8:g.2267835_2267838del	NCBI36
NG_011790.1:g.67911_67914del

Transcript Alleles

HGVS	Amino-acid change
ENST00000301732.10:c.4909+43_4909+46del MANE Select	ENSP00000301732.5:n.4909+43_4909+46del
ENST00000301732.9:c.4909+43_4909+46del	ENSP00000301732.5:n.4909+43_4909+46del
ENST00000382381.7:c.4735+43_4735+46del	ENSP00000371818.3:n.4735+43_4735+46del
NM_001089.2:c.4909+43_4909+46del	NP_001080.2:n.4909+43_4909+46del
NM_001089.3:c.4909+43_4909+46del MANE Select	NP_001080.2:n.4909+43_4909+46del