Canonical Allele Identifier: CA16614576
Gene: NIPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 412532
ClinVar RCV Id: RCV000463295 RCV000481443 RCV001696902
dbSNP Id: rs531550505
gnomAD v2: 15-23086364-GGCCGCC-G
gnomAD v3: 15-22786677-AGCGGCG-A
gnomAD v4: 15-22786677-AGCGGCG-A
MyVariant Identifiers: chr15:g.23086380_23086385del (hg19) chr15:g.23086371_23086376del (hg19) chr15:g.23086368_23086373del (hg19) chr15:g.23086365_23086370del (hg19) chr15:g.22786698_22786703del (hg38) chr15:g.22786678_22786683del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786698_22786703del , CM000677.2:g.22786698_22786703del GRCh38
NC_000015.9:g.23086385_23086390del , CM000677.1:g.23086385_23086390del GRCh37
NC_000015.8:g.20637826_20637831del NCBI36
NG_009056.1:g.5474_5479del

Transcript Alleles

HGVS Amino-acid change
ENST00000337435.9:c.42_47del MANE Select ENSP00000337452.4:p.Ala15_Ala16del
ENST00000337435.8:c.42_47del ENSP00000337452.4:p.Ala15_Ala16del
ENST00000437912.6:c.-48+12385_-48+12390del ENSP00000393962.2:n.-48+12385_-48+12390del
ENST00000560069.5:n.31+450_31+455del
ENST00000561183.5:c.-48+450_-48+455del ENSP00000453722.1:n.-48+450_-48+455del
NM_001142275.1:c.-48+450_-48+455del NP_001135747.1:n.-48+450_-48+455del
NM_144599.4:c.42_47del NP_653200.2:p.Ala15_Ala16del
NM_144599.5:c.42_47del MANE Select NP_653200.2:p.Ala15_Ala16del
Search 100 bp 5'
Search 100 bp 3'