Canonical Allele Identifier: CA617083342
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs1566772866
gnomAD v2: 15-23086385-CGCCGCTGCCGCA-C
gnomAD v3: 15-22786668-AGCTGCGGCAGCG-A
gnomAD v4: 15-22786668-AGCTGCGGCAGCG-A
MyVariant Identifiers: chr15:g.23086386_23086397del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786671_22786682del , CM000677.2:g.22786671_22786682del GRCh38
NC_000015.9:g.23086388_23086399del , CM000677.1:g.23086388_23086399del GRCh37
NC_000015.8:g.20637829_20637840del NCBI36
NG_009056.1:g.5447_5458del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.15_26del MANE Select ENSP00000337452.4:p.Ala6_Ala9del
ENST00000337435.8:c.15_26del ENSP00000337452.4:p.Ala6_Ala9del
ENST00000437912.6:c.-48+12358_-48+12369del ENSP00000393962.2:n.-48+12358_-48+12369del
ENST00000560069.5:n.31+423_31+434del
ENST00000561183.5:c.-48+423_-48+434del ENSP00000453722.1:n.-48+423_-48+434del
NM_001142275.1:c.-48+423_-48+434del NP_001135747.1:n.-48+423_-48+434del
NM_144599.4:c.15_26del NP_653200.2:p.Ala6_Ala9del
NM_144599.5:c.15_26del MANE Select NP_653200.2:p.Ala6_Ala9del
Search 100 bp 5'
Search 100 bp 3'