Canonical Allele Identifier: CA2202146328
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1813237351
gnomAD v4: 16-2278495-TGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278499_2278500del , CM000678.2:g.2278499_2278500del GRCh38
NC_000016.9:g.2328500_2328501del , CM000678.1:g.2328500_2328501del GRCh37
NC_000016.8:g.2268501_2268502del NCBI36
NG_011790.1:g.67250_67251del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-39_4548-38del MANE Select ENSP00000301732.5:n.4548-39_4548-38del
ENST00000301732.9:c.4548-39_4548-38del ENSP00000301732.5:n.4548-39_4548-38del
ENST00000382381.7:c.4374-39_4374-38del ENSP00000371818.3:n.4374-39_4374-38del
ENST00000566200.1:n.1069-39_1069-38del
NM_001089.2:c.4548-39_4548-38del NP_001080.2:n.4548-39_4548-38del
NM_001089.3:c.4548-39_4548-38del MANE Select NP_001080.2:n.4548-39_4548-38del
Search 100 bp 5'
Search 100 bp 3'