Canonical Allele Identifier: CA601692927

Gene: NPAT

Linked Data

• dbSNP Id: rs145766814
• gnomAD v2: 11-108090459-AAACAACAACAAC-A
• gnomAD v3: 11-108219732-AAACAACAACAAC-A
• gnomAD v4: 11-108219732-AAACAACAACAAC-A
• MyVariant Identifiers: chr11:g.108090463_108090474del (hg19) ; chr11:g.108090460_108090471del (hg19) ; chr11:g.108219736_108219747del (hg38) ; chr11:g.108219733_108219744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108219750_108219761del , CM000673.2:g.108219750_108219761del	GRCh38
NC_000011.9:g.108090477_108090488del , CM000673.1:g.108090477_108090488del	GRCh37
NC_000011.8:g.107595687_107595698del	NCBI36
NG_009830.1:g.1919_1930del , LRG_135:g.1919_1930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278612.9:c.37+2756_37+2767del MANE Select	ENSP00000278612.8:n.37+2756_37+2767del
ENST00000278612.8:c.37+2756_37+2767del	ENSP00000278612.8:n.37+2756_37+2767del
ENST00000531384.1:c.37+2756_37+2767del	ENSP00000433497.1:n.37+2756_37+2767del
ENST00000610253.5:n.137+2756_137+2767del
NM_002519.2:c.37+2756_37+2767del	NP_002510.2:n.37+2756_37+2767del
XM_011542854.1:c.37+2756_37+2767del	XP_011541156.1:n.37+2756_37+2767del
XM_011542855.1:c.37+2756_37+2767del	XP_011541157.1:n.37+2756_37+2767del
NM_001321307.1:c.37+2756_37+2767del	NP_001308236.1:n.37+2756_37+2767del
XM_011542854.2:c.37+2756_37+2767del	XP_011541156.1:n.37+2756_37+2767del
NM_002519.3:c.37+2756_37+2767del MANE Select	NP_002510.2:n.37+2756_37+2767del