Canonical Allele Identifier: CA200624

Gene: NIPA1

Linked Data

• ClinVar Variation Id: 193496
• ClinVar RCV Id: RCV000173569 ; RCV000228668 ; RCV000368522 ; RCV000516128 ; RCV001697203
• dbSNP Id: rs531550505
• gnomAD v2: 15-23086364-G-GGCCGCC
• gnomAD v3: 15-22786677-A-AGCGGCG
• gnomAD v4: 15-22786677-A-AGCGGCG
• MyVariant Identifiers: chr15:g.23086365_23086370dupGCCGCC (hg19) ; chr15:g.23086385_23086386insGCCGCC (hg19) ; chr15:g.23086376_23086377insGCCGCC (hg19) ; chr15:g.23086373_23086374insGCCGCC (hg19) ; chr15:g.23086370_23086371insGCCGCC (hg19) ; chr15:g.23086367_23086368insGCCGCC (hg19) ; chr15:g.23086364_23086365insGCCGCC (hg19) ; chr15:g.22786677_22786678insGCGGCG (hg38)
• PubMed: PMID:14508708 ; PMID:28832565

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786698_22786703dup , CM000677.2:g.22786698_22786703dup	GRCh38
NC_000015.9:g.23086385_23086390dup , CM000677.1:g.23086385_23086390dup	GRCh37
NC_000015.8:g.20637826_20637831dup	NCBI36
NG_009056.1:g.5474_5479dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.42_47dup MANE Select	ENSP00000337452.4:p.Ala16_Gly17insAlaAla
ENST00000337435.8:c.42_47dup	ENSP00000337452.4:p.Ala16_Gly17insAlaAla
ENST00000437912.6:c.-48+12385_-48+12390dup	ENSP00000393962.2:n.-48+12385_-48+12390dup
ENST00000560069.5:n.31+450_31+455dup
ENST00000561183.5:c.-48+450_-48+455dup	ENSP00000453722.1:n.-48+450_-48+455dup
NM_001142275.1:c.-48+450_-48+455dup	NP_001135747.1:n.-48+450_-48+455dup
NM_144599.4:c.42_47dup	NP_653200.2:p.Ala16_Gly17insAlaAla
NM_144599.5:c.42_47dup MANE Select	NP_653200.2:p.Ala16_Gly17insAlaAla