Canonical Allele Identifier: CA617083349
Gene: NIPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2434357
ClinVar RCV Id: RCV003131803
dbSNP Id: rs1314889289
gnomAD v2: 15-23086373-CGCCGCCGCCGCCGCCGCT-C
gnomAD v3: 15-22786671-TGCGGCAGCGGCGGCGGCG-T
gnomAD v4: 15-22786671-TGCGGCAGCGGCGGCGGCG-T
MyVariant Identifiers: chr15:g.23086374_23086391del (hg19) chr15:g.22786672_22786689del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786677_22786694del , CM000677.2:g.22786677_22786694del GRCh38
NC_000015.9:g.23086379_23086396del , CM000677.1:g.23086379_23086396del GRCh37
NC_000015.8:g.20637820_20637837del NCBI36
NG_009056.1:g.5453_5470del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.21_38del MANE Select ENSP00000337452.4:p.Ala8_Ala13del
ENST00000337435.8:c.21_38del ENSP00000337452.4:p.Ala8_Ala13del
ENST00000437912.6:c.-48+12364_-48+12381del ENSP00000393962.2:n.-48+12364_-48+12381del
ENST00000560069.5:n.31+429_31+446del
ENST00000561183.5:c.-48+429_-48+446del ENSP00000453722.1:n.-48+429_-48+446del
NM_001142275.1:c.-48+429_-48+446del NP_001135747.1:n.-48+429_-48+446del
NM_144599.4:c.21_38del NP_653200.2:p.Ala8_Ala13del
NM_144599.5:c.21_38del MANE Select NP_653200.2:p.Ala8_Ala13del
Search 100 bp 5'
Search 100 bp 3'