Canonical Allele Identifier: CA2163910578
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs1894707033
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786671_22786685del , CM000677.2:g.22786671_22786685del GRCh38
NC_000015.9:g.23086385_23086399del , CM000677.1:g.23086385_23086399del GRCh37
NC_000015.8:g.20637826_20637840del NCBI36
NG_009056.1:g.5447_5461del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.15_29del MANE Select ENSP00000337452.4:p.Ala6_Ala10del
ENST00000337435.8:c.15_29del ENSP00000337452.4:p.Ala6_Ala10del
ENST00000437912.6:c.-48+12358_-48+12372del ENSP00000393962.2:n.-48+12358_-48+12372del
ENST00000560069.5:n.31+423_31+437del
ENST00000561183.5:c.-48+423_-48+437del ENSP00000453722.1:n.-48+423_-48+437del
NM_001142275.1:c.-48+423_-48+437del NP_001135747.1:n.-48+423_-48+437del
NM_144599.4:c.15_29del NP_653200.2:p.Ala6_Ala10del
NM_144599.5:c.15_29del MANE Select NP_653200.2:p.Ala6_Ala10del
Search 100 bp 5'
Search 100 bp 3'