Canonical Allele Identifier: CA2631190195
Gene: ABCA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317801del , CM000678.2:g.2317801del GRCh38
NC_000016.9:g.2367802del , CM000678.1:g.2367802del GRCh37
NC_000016.8:g.2307803del NCBI36
NG_011790.1:g.27946del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.874-37del MANE Select ENSP00000301732.5:n.874-37del
ENST00000301732.9:c.874-37del ENSP00000301732.5:n.874-37del
ENST00000382381.7:c.874-37del ENSP00000371818.3:n.874-37del
ENST00000563623.5:n.1437-37del
NM_001089.2:c.874-37del NP_001080.2:n.874-37del
NM_001089.3:c.874-37del MANE Select NP_001080.2:n.874-37del