Canonical Allele Identifier: CA2627248990
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22786663-ACTGCAGCTGCGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786665_22786676del , CM000677.2:g.22786665_22786676del GRCh38
NC_000015.9:g.23086393_23086404del , CM000677.1:g.23086393_23086404del GRCh37
NC_000015.8:g.20637834_20637845del NCBI36
NG_009056.1:g.5441_5452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.9_20del MANE Select ENSP00000337452.4:p.Ala4_Ala7del
ENST00000337435.8:c.9_20del ENSP00000337452.4:p.Ala4_Ala7del
ENST00000437912.6:c.-48+12352_-48+12363del ENSP00000393962.2:n.-48+12352_-48+12363del
ENST00000560069.5:n.31+417_31+428del
ENST00000561183.5:c.-48+417_-48+428del ENSP00000453722.1:n.-48+417_-48+428del
NM_001142275.1:c.-48+417_-48+428del NP_001135747.1:n.-48+417_-48+428del
NM_144599.4:c.9_20del NP_653200.2:p.Ala4_Ala7del
NM_144599.5:c.9_20del MANE Select NP_653200.2:p.Ala4_Ala7del
Search 100 bp 5'
Search 100 bp 3'