Canonical Allele Identifier: CA671405995

Gene: NPAT

Linked Data

• dbSNP Id: rs1325964488
• gnomAD v3: 11-108219755-ACAACAAACT-A
• gnomAD v4: 11-108219755-ACAACAAACT-A
• MyVariant Identifiers: chr11:g.108090483_108090491del (hg19) ; chr11:g.108219756_108219764del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108219758_108219766del , CM000673.2:g.108219758_108219766del	GRCh38
NC_000011.9:g.108090485_108090493del , CM000673.1:g.108090485_108090493del	GRCh37
NC_000011.8:g.107595695_107595703del	NCBI36
NG_009830.1:g.1927_1935del , LRG_135:g.1927_1935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278612.9:c.37+2736_37+2744del MANE Select	ENSP00000278612.8:n.37+2736_37+2744del
ENST00000278612.8:c.37+2736_37+2744del	ENSP00000278612.8:n.37+2736_37+2744del
ENST00000531384.1:c.37+2736_37+2744del	ENSP00000433497.1:n.37+2736_37+2744del
ENST00000610253.5:n.137+2736_137+2744del
NM_002519.2:c.37+2736_37+2744del	NP_002510.2:n.37+2736_37+2744del
XM_011542854.1:c.37+2736_37+2744del	XP_011541156.1:n.37+2736_37+2744del
XM_011542855.1:c.37+2736_37+2744del	XP_011541157.1:n.37+2736_37+2744del
NM_001321307.1:c.37+2736_37+2744del	NP_001308236.1:n.37+2736_37+2744del
XM_011542854.2:c.37+2736_37+2744del	XP_011541156.1:n.37+2736_37+2744del
NM_002519.3:c.37+2736_37+2744del MANE Select	NP_002510.2:n.37+2736_37+2744del