Canonical Allele Identifier: CA228361589

Gene: NPAT

Linked Data

• dbSNP Id: rs899323947
• gnomAD v3: 11-108219736-AAC-A
• gnomAD v4: 11-108219736-AAC-A
• MyVariant Identifiers: chr11:g.108090464_108090465del (hg19) ; chr11:g.108219737_108219738del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108219738_108219739del , CM000673.2:g.108219738_108219739del	GRCh38
NC_000011.9:g.108090465_108090466del , CM000673.1:g.108090465_108090466del	GRCh37
NC_000011.8:g.107595675_107595676del	NCBI36
NG_009830.1:g.1907_1908del , LRG_135:g.1907_1908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278612.9:c.37+2762_37+2763del MANE Select	ENSP00000278612.8:n.37+2762_37+2763del
ENST00000278612.8:c.37+2762_37+2763del	ENSP00000278612.8:n.37+2762_37+2763del
ENST00000531384.1:c.37+2762_37+2763del	ENSP00000433497.1:n.37+2762_37+2763del
ENST00000610253.5:n.137+2762_137+2763del
NM_002519.2:c.37+2762_37+2763del	NP_002510.2:n.37+2762_37+2763del
XM_011542854.1:c.37+2762_37+2763del	XP_011541156.1:n.37+2762_37+2763del
XM_011542855.1:c.37+2762_37+2763del	XP_011541157.1:n.37+2762_37+2763del
NM_001321307.1:c.37+2762_37+2763del	NP_001308236.1:n.37+2762_37+2763del
XM_011542854.2:c.37+2762_37+2763del	XP_011541156.1:n.37+2762_37+2763del
NM_002519.3:c.37+2762_37+2763del MANE Select	NP_002510.2:n.37+2762_37+2763del