Canonical Allele Identifier: CA2627249139
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22786696-GCGGCGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786700_22786706del , CM000677.2:g.22786700_22786706del GRCh38
NC_000015.9:g.23086365_23086371del , CM000677.1:g.23086365_23086371del GRCh37
NC_000015.8:g.20637806_20637812del NCBI36
NG_009056.1:g.5476_5482del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.44_50del MANE Select ENSP00000337452.4:p.Ala15GlyfsTer25
ENST00000337435.8:c.44_50del ENSP00000337452.4:p.Ala15GlyfsTer25
ENST00000437912.6:c.-48+12387_-48+12393del ENSP00000393962.2:n.-48+12387_-48+12393del
ENST00000560069.5:n.31+452_31+458del
ENST00000561183.5:c.-48+452_-48+458del ENSP00000453722.1:n.-48+452_-48+458del
NM_001142275.1:c.-48+452_-48+458del NP_001135747.1:n.-48+452_-48+458del
NM_144599.4:c.44_50del NP_653200.2:p.Ala15GlyfsTer25
NM_144599.5:c.44_50del MANE Select NP_653200.2:p.Ala15GlyfsTer25
Search 100 bp 5'
Search 100 bp 3'