Canonical Allele Identifier: CA7426231
Gene: NIPA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 695853
ClinVar RCV Id: RCV000861816 RCV001530855 RCV001849151
dbSNP Id: rs769916931
ExAC: 15:23086388 CGCT / C
gnomAD v2: 15-23086388-CGCT-C
gnomAD v3: 15-22786674-GGCA-G
gnomAD v4: 15-22786674-GGCA-G
MyVariant Identifiers: chr15:g.23086389_23086391del (hg19) chr15:g.23086391_23086397delinsCGCA (hg19) chr15:g.22786675_22786677del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786677_22786679del , CM000677.2:g.22786677_22786679del GRCh38
NC_000015.9:g.23086391_23086393del , CM000677.1:g.23086391_23086393del GRCh37
NC_000015.8:g.20637832_20637834del NCBI36
NG_009056.1:g.5453_5455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.21_23del MANE Select ENSP00000337452.4:p.Ala8del
ENST00000337435.8:c.21_23del ENSP00000337452.4:p.Ala8del
ENST00000437912.6:c.-48+12364_-48+12366del ENSP00000393962.2:n.-48+12364_-48+12366del
ENST00000560069.5:n.31+429_31+431del
ENST00000561183.5:c.-48+429_-48+431del ENSP00000453722.1:n.-48+429_-48+431del
NM_001142275.1:c.-48+429_-48+431del NP_001135747.1:n.-48+429_-48+431del
NM_144599.4:c.21_23del NP_653200.2:p.Ala8del
NM_144599.5:c.21_23del MANE Select NP_653200.2:p.Ala8del
Search 100 bp 5'
Search 100 bp 3'