Canonical Allele Identifier: CA2627249090
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22786688-CGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786689_22786690del , CM000677.2:g.22786689_22786690del GRCh38
NC_000015.9:g.23086378_23086379del , CM000677.1:g.23086378_23086379del GRCh37
NC_000015.8:g.20637819_20637820del NCBI36
NG_009056.1:g.5465_5466del

Transcript Alleles

HGVS Amino-acid change
ENST00000337435.9:c.33_34del MANE Select ENSP00000337452.4:p.Ala12GlyfsTer10
ENST00000337435.8:c.33_34del ENSP00000337452.4:p.Ala12GlyfsTer10
ENST00000437912.6:c.-48+12376_-48+12377del ENSP00000393962.2:n.-48+12376_-48+12377del
ENST00000560069.5:n.31+441_31+442del
ENST00000561183.5:c.-48+441_-48+442del ENSP00000453722.1:n.-48+441_-48+442del
NM_001142275.1:c.-48+441_-48+442del NP_001135747.1:n.-48+441_-48+442del
NM_144599.4:c.33_34del NP_653200.2:p.Ala12GlyfsTer10
NM_144599.5:c.33_34del MANE Select NP_653200.2:p.Ala12GlyfsTer10
Search 100 bp 5'
Search 100 bp 3'