Canonical Allele Identifier: CA967611909
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs1314889289
gnomAD v3: 15-22786671-T-TGCGGCAGCGGCGGCGGCG
gnomAD v4: 15-22786671-T-TGCGGCAGCGGCGGCGGCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786677_22786694dup , CM000677.2:g.22786677_22786694dup GRCh38
NC_000015.9:g.23086379_23086396dup , CM000677.1:g.23086379_23086396dup GRCh37
NC_000015.8:g.20637820_20637837dup NCBI36
NG_009056.1:g.5453_5470dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.21_38dup MANE Select ENSP00000337452.4:p.Ala13_Ala14insAlaAlaAlaAlaAlaAla
ENST00000337435.8:c.21_38dup ENSP00000337452.4:p.Ala13_Ala14insAlaAlaAlaAlaAlaAla
ENST00000437912.6:c.-48+12364_-48+12381dup ENSP00000393962.2:n.-48+12364_-48+12381dup
ENST00000560069.5:n.31+429_31+446dup
ENST00000561183.5:c.-48+429_-48+446dup ENSP00000453722.1:n.-48+429_-48+446dup
NM_001142275.1:c.-48+429_-48+446dup NP_001135747.1:n.-48+429_-48+446dup
NM_144599.4:c.21_38dup NP_653200.2:p.Ala13_Ala14insAlaAlaAlaAlaAlaAla
NM_144599.5:c.21_38dup MANE Select NP_653200.2:p.Ala13_Ala14insAlaAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'