Canonical Allele Identifier: CA228400139
Community Standard Title: NM_002519.3(NPAT):c.638+13del
Gene: NPAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108188089del , CM000673.2:g.108188089del GRCh38
NC_000011.9:g.108058816del , CM000673.1:g.108058816del GRCh37
NC_000011.8:g.107564026del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002519.3:c.638+13del MANE Select NP_002510.2:n.638+13del
ENST00000278612.9:c.638+13del MANE Select ENSP00000278612.8:n.638+13del
NM_001321307.1:c.638+13del NP_001308236.1:n.638+13del
NM_002519.2:c.638+13del NP_002510.2:n.638+13del
ENST00000278612.8:c.638+13del ENSP00000278612.8:n.638+13del
ENST00000610253.5:n.745+13del
XM_011542854.1:c.638+13del XP_011541156.1:n.638+13del
XM_011542854.2:c.638+13del XP_011541156.1:n.638+13del
XM_011542855.1:c.638+13del XP_011541157.1:n.638+13del
XM_017017802.1:c.434+13del XP_016873291.1:n.434+13del
XM_017017803.1:c.434+13del XP_016873292.1:n.434+13del