Canonical Allele Identifier: CA228361569

Gene: NPAT

Linked Data

• dbSNP Id: rs145766814
• gnomAD v2: 11-108090459-A-AAAC
• gnomAD v3: 11-108219732-A-AAAC
• gnomAD v4: 11-108219732-A-AAAC
• MyVariant Identifiers: chr11:g.108090474_108090475insAAC (hg19) ; chr11:g.108090459_108090460insAAC (hg19) ; chr11:g.108219747_108219748insAAC (hg38) ; chr11:g.108219732_108219733insAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108219759_108219761dup , CM000673.2:g.108219759_108219761dup	GRCh38
NC_000011.9:g.108090486_108090488dup , CM000673.1:g.108090486_108090488dup	GRCh37
NC_000011.8:g.107595696_107595698dup	NCBI36
NG_009830.1:g.1928_1930dup , LRG_135:g.1928_1930dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278612.9:c.37+2765_37+2767dup MANE Select	ENSP00000278612.8:n.37+2765_37+2767dup
ENST00000278612.8:c.37+2765_37+2767dup	ENSP00000278612.8:n.37+2765_37+2767dup
ENST00000531384.1:c.37+2765_37+2767dup	ENSP00000433497.1:n.37+2765_37+2767dup
ENST00000610253.5:n.137+2765_137+2767dup
NM_002519.2:c.37+2765_37+2767dup	NP_002510.2:n.37+2765_37+2767dup
XM_011542854.1:c.37+2765_37+2767dup	XP_011541156.1:n.37+2765_37+2767dup
XM_011542855.1:c.37+2765_37+2767dup	XP_011541157.1:n.37+2765_37+2767dup
NM_001321307.1:c.37+2765_37+2767dup	NP_001308236.1:n.37+2765_37+2767dup
XM_011542854.2:c.37+2765_37+2767dup	XP_011541156.1:n.37+2765_37+2767dup
NM_002519.3:c.37+2765_37+2767dup MANE Select	NP_002510.2:n.37+2765_37+2767dup