Canonical Allele Identifier: CA2631191208
Gene: ABCA3 HGNC NCBI

Linked Data

gnomAD v4: 16-2326228-AGCAATG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326232_2326237del , CM000678.2:g.2326232_2326237del GRCh38
NC_000016.9:g.2376233_2376238del , CM000678.1:g.2376233_2376238del GRCh37
NC_000016.8:g.2316234_2316239del NCBI36
NG_011790.1:g.19513_19518del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.95_100del MANE Select ENSP00000301732.5:p.Pro32_Leu33del
ENST00000301732.9:c.95_100del ENSP00000301732.5:p.Pro32_Leu33del
ENST00000382381.7:c.95_100del ENSP00000371818.3:p.Pro32_Leu33del
ENST00000563623.5:n.658_663del
ENST00000567910.1:c.95_100del ENSP00000454397.1:p.Pro32_Leu33del
NM_001089.2:c.95_100del NP_001080.2:p.Pro32_Leu33del
NM_001089.3:c.95_100del MANE Select NP_001080.2:p.Pro32_Leu33del
Search 100 bp 5'
Search 100 bp 3'