Canonical Allele Identifier: CA2627248966
Gene: NIPA1 HGNC NCBI

Linked Data

gnomAD v4: 15-22786647-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.22786648dup , CM000677.2:g.22786648dup GRCh38
NC_000015.9:g.23086420dup , CM000677.1:g.23086420dup GRCh37
NC_000015.8:g.20637861dup NCBI36
NG_009056.1:g.5424dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000337435.9:c.-9dup MANE Select ENSP00000337452.4:n.-9dup
ENST00000337435.8:c.-9dup ENSP00000337452.4:n.-9dup
ENST00000437912.6:c.-48+12335dup ENSP00000393962.2:n.-48+12335dup
ENST00000560069.5:n.31+400dup
ENST00000561183.5:c.-48+400dup ENSP00000453722.1:n.-48+400dup
NM_001142275.1:c.-48+400dup NP_001135747.1:n.-48+400dup
NM_144599.4:c.-9dup NP_653200.2:n.-9dup
NM_144599.5:c.-9dup MANE Select NP_653200.2:n.-9dup
Search 100 bp 5'
Search 100 bp 3'