Canonical Allele Identifier: CA1998755666
Gene: NPAT HGNC NCBI

Linked Data

dbSNP Id: rs2078470398
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108220206del , CM000673.2:g.108220206del GRCh38
NC_000011.9:g.108090933del , CM000673.1:g.108090933del GRCh37
NC_000011.8:g.107596143del NCBI36
NG_009830.1:g.2375del , LRG_135:g.2375del

Transcript Alleles

HGVS Amino-acid Change
ENST00000278612.9:c.37+2294del MANE Select ENSP00000278612.8:n.37+2294del
ENST00000278612.8:c.37+2294del ENSP00000278612.8:n.37+2294del
ENST00000531384.1:c.37+2294del ENSP00000433497.1:n.37+2294del
ENST00000610253.5:n.137+2294del
NM_002519.2:c.37+2294del NP_002510.2:n.37+2294del
XM_011542854.1:c.37+2294del XP_011541156.1:n.37+2294del
XM_011542855.1:c.37+2294del XP_011541157.1:n.37+2294del
NM_001321307.1:c.37+2294del NP_001308236.1:n.37+2294del
XM_011542854.2:c.37+2294del XP_011541156.1:n.37+2294del
NM_002519.3:c.37+2294del MANE Select NP_002510.2:n.37+2294del
Search 100 bp 5'
Search 100 bp 3'