Canonical Allele Identifier: CA2631189696

Gene: ABCA3

Linked Data

• gnomAD v4: 16-2299557-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2299560del , CM000678.2:g.2299560del	GRCh38
NC_000016.9:g.2349561del , CM000678.1:g.2349561del	GRCh37
NC_000016.8:g.2289562del	NCBI36
NG_011790.1:g.46189del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1612-26del MANE Select	ENSP00000301732.5:n.1612-26del
ENST00000301732.9:c.1612-26del	ENSP00000301732.5:n.1612-26del
ENST00000382381.7:c.1438-26del	ENSP00000371818.3:n.1438-26del
ENST00000563623.5:n.2175-26del
NM_001089.2:c.1612-26del	NP_001080.2:n.1612-26del
NM_001089.3:c.1612-26del MANE Select	NP_001080.2:n.1612-26del