Canonical Allele Identifier: CA2838494257

Gene: PTPN23

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47412333del , CM000665.2:g.47412333del	GRCh38
NC_000003.11:g.47453823del , CM000665.1:g.47453823del	GRCh37
NC_000003.10:g.47428827del	NCBI36
NG_051056.1:g.36352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683708.1:n.989del
ENST00000265562.5:c.4229del MANE Select	ENSP00000265562.4:p.Gln1410ArgfsTer?
ENST00000265562.4:c.4229del	ENSP00000265562.4:p.Gln1410ArgfsTer?
ENST00000602307.5:c.*3906del	ENSP00000473266.1:n.*3906del
NM_001304482.1:c.3851del	NP_001291411.1:p.Gln1284ArgfsTer?
NM_015466.3:c.4229del	NP_056281.1:p.Gln1410ArgfsTer?
XM_005265031.2:c.4199del	XP_005265088.2:p.Gln1400ArgfsTer?
NM_015466.4:c.4229del MANE Select	NP_056281.1:p.Gln1410ArgfsTer?
NM_001304482.2:c.3851del	NP_001291411.1:p.Gln1284ArgfsTer?