Canonical Allele Identifier: CA2573152000
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1437739
ClinVar RCV Id: RCV001965026
dbSNP Id: rs2141695316
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285603del , CM000678.2:g.2285603del GRCh38
NC_000016.9:g.2335604del , CM000678.1:g.2335604del GRCh37
NC_000016.8:g.2275605del NCBI36
NG_011790.1:g.60144del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.3322del MANE Select ENSP00000301732.5:p.Met1108TrpfsTer26
ENST00000301732.9:c.3322del ENSP00000301732.5:p.Met1108TrpfsTer26
ENST00000382381.7:c.3148del ENSP00000371818.3:p.Met1050TrpfsTer26
NM_001089.2:c.3322del NP_001080.2:p.Met1108TrpfsTer26
NM_001089.3:c.3322del MANE Select NP_001080.2:p.Met1108TrpfsTer26
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