Canonical Allele Identifier: CA711208411
Gene: NIPA1 HGNC NCBI

Linked Data

dbSNP Id: rs1186702468
gnomAD v3: 15-22786662-GACTGCA-G
gnomAD v4: 15-22786662-GACTGCA-G
MyVariant Identifiers: chr15:g.23086400_23086405del (hg19) chr15:g.22786663_22786668del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786663_22786668del , CM000677.2:g.22786663_22786668del GRCh38
NC_000015.9:g.23086400_23086405del , CM000677.1:g.23086400_23086405del GRCh37
NC_000015.8:g.20637841_20637846del NCBI36
NG_009056.1:g.5439_5444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.7_12del MANE Select ENSP00000337452.4:p.Thr3_Ala4del
ENST00000337435.8:c.7_12del ENSP00000337452.4:p.Thr3_Ala4del
ENST00000437912.6:c.-48+12350_-48+12355del ENSP00000393962.2:n.-48+12350_-48+12355del
ENST00000560069.5:n.31+415_31+420del
ENST00000561183.5:c.-48+415_-48+420del ENSP00000453722.1:n.-48+415_-48+420del
NM_001142275.1:c.-48+415_-48+420del NP_001135747.1:n.-48+415_-48+420del
NM_144599.4:c.7_12del NP_653200.2:p.Thr3_Ala4del
NM_144599.5:c.7_12del MANE Select NP_653200.2:p.Thr3_Ala4del
Search 100 bp 5'
Search 100 bp 3'