Canonical Allele Identifier: CA942013522

Gene: NPAT

Linked Data

• dbSNP Id: rs2078466302
• gnomAD v3: 11-108219728-AAACAAAC-A
• gnomAD v4: 11-108219728-AAACAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108219734_108219740del , CM000673.2:g.108219734_108219740del	GRCh38
NC_000011.9:g.108090461_108090467del , CM000673.1:g.108090461_108090467del	GRCh37
NC_000011.8:g.107595671_107595677del	NCBI36
NG_009830.1:g.1903_1909del , LRG_135:g.1903_1909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278612.9:c.37+2765_37+2771del MANE Select	ENSP00000278612.8:n.37+2765_37+2771del
ENST00000278612.8:c.37+2765_37+2771del	ENSP00000278612.8:n.37+2765_37+2771del
ENST00000531384.1:c.37+2765_37+2771del	ENSP00000433497.1:n.37+2765_37+2771del
ENST00000610253.5:n.137+2765_137+2771del
NM_002519.2:c.37+2765_37+2771del	NP_002510.2:n.37+2765_37+2771del
XM_011542854.1:c.37+2765_37+2771del	XP_011541156.1:n.37+2765_37+2771del
XM_011542855.1:c.37+2765_37+2771del	XP_011541157.1:n.37+2765_37+2771del
NM_001321307.1:c.37+2765_37+2771del	NP_001308236.1:n.37+2765_37+2771del
XM_011542854.2:c.37+2765_37+2771del	XP_011541156.1:n.37+2765_37+2771del
NM_002519.3:c.37+2765_37+2771del MANE Select	NP_002510.2:n.37+2765_37+2771del