Canonical Allele Identifier: CA1998755440
Gene: NPAT HGNC NCBI

Linked Data

dbSNP Id: rs2078466346
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108219734del , CM000673.2:g.108219734del GRCh38
NC_000011.9:g.108090461del , CM000673.1:g.108090461del GRCh37
NC_000011.8:g.107595671del NCBI36
NG_009830.1:g.1903del , LRG_135:g.1903del

Transcript Alleles

HGVS Amino-acid Change
ENST00000278612.9:c.37+2768del MANE Select ENSP00000278612.8:n.37+2768del
ENST00000278612.8:c.37+2768del ENSP00000278612.8:n.37+2768del
ENST00000531384.1:c.37+2768del ENSP00000433497.1:n.37+2768del
ENST00000610253.5:n.137+2768del
NM_002519.2:c.37+2768del NP_002510.2:n.37+2768del
XM_011542854.1:c.37+2768del XP_011541156.1:n.37+2768del
XM_011542855.1:c.37+2768del XP_011541157.1:n.37+2768del
NM_001321307.1:c.37+2768del NP_001308236.1:n.37+2768del
XM_011542854.2:c.37+2768del XP_011541156.1:n.37+2768del
NM_002519.3:c.37+2768del MANE Select NP_002510.2:n.37+2768del
Search 100 bp 5'
Search 100 bp 3'