Canonical Allele Identifier: CA2163910593

Gene: NIPA1

Linked Data

• dbSNP Id: rs769916931
• gnomAD v4: 15-22786674-G-GGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786677_22786679dup , CM000677.2:g.22786677_22786679dup	GRCh38
NC_000015.9:g.23086391_23086393dup , CM000677.1:g.23086391_23086393dup	GRCh37
NC_000015.8:g.20637832_20637834dup	NCBI36
NG_009056.1:g.5453_5455dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.21_23dup MANE Select	ENSP00000337452.4:p.Ala8_Ala9insAla
ENST00000337435.8:c.21_23dup	ENSP00000337452.4:p.Ala8_Ala9insAla
ENST00000437912.6:c.-48+12364_-48+12366dup	ENSP00000393962.2:n.-48+12364_-48+12366dup
ENST00000560069.5:n.31+429_31+431dup
ENST00000561183.5:c.-48+429_-48+431dup	ENSP00000453722.1:n.-48+429_-48+431dup
NM_001142275.1:c.-48+429_-48+431dup	NP_001135747.1:n.-48+429_-48+431dup
NM_144599.4:c.21_23dup	NP_653200.2:p.Ala8_Ala9insAla
NM_144599.5:c.21_23dup MANE Select	NP_653200.2:p.Ala8_Ala9insAla