Canonical Allele Identifier: CA2627251407
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22825271-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22825274del , CM000677.2:g.22825274del GRCh38
NC_000015.9:g.23047796del , CM000677.1:g.23047796del GRCh37
NC_000015.8:g.20599237del NCBI36
NG_009056.1:g.44050del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.*1035del MANE Select ENSP00000337452.4:n.*1035del
ENST00000337435.8:c.*1035del ENSP00000337452.4:n.*1035del
ENST00000437912.6:c.*1035del ENSP00000393962.2:n.*1035del
ENST00000559448.5:c.1997del
NM_001142275.1:c.*1035del NP_001135747.1:n.*1035del
NM_144599.4:c.*1035del NP_653200.2:n.*1035del
NM_144599.5:c.*1035del MANE Select NP_653200.2:n.*1035del
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Search 100 bp 3'