Canonical Allele Identifier: CA2631191207
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2326159-TAGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326160_2326162del , CM000678.2:g.2326160_2326162del GRCh38
NC_000016.9:g.2376161_2376163del , CM000678.1:g.2376161_2376163del GRCh37
NC_000016.8:g.2316162_2316164del NCBI36
NG_011790.1:g.19585_19587del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.167_169del MANE Select ENSP00000301732.5:p.Ile56_Tyr57delinsAsn
ENST00000301732.9:c.167_169del ENSP00000301732.5:p.Ile56_Tyr57delinsAsn
ENST00000382381.7:c.167_169del ENSP00000371818.3:p.Ile56_Tyr57delinsAsn
ENST00000563623.5:n.730_732del
ENST00000567910.1:c.167_169del ENSP00000454397.1:p.Ile56_Tyr57delinsAsn
NM_001089.2:c.167_169del NP_001080.2:p.Ile56_Tyr57delinsAsn
NM_001089.3:c.167_169del MANE Select NP_001080.2:p.Ile56_Tyr57delinsAsn
Search 100 bp 5'
Search 100 bp 3'