Canonical Allele Identifier: CA2511431288

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679702_55679703insTTGCTTCATATCAAATGATT , CM000664.2:g.55679702_55679703insTTGCTTCATATCAAATGATT	GRCh38
NC_000002.11:g.55906837_55906838insTTGCTTCATATCAAATGATT , CM000664.1:g.55906837_55906838insTTGCTTCATATCAAATGATT	GRCh37
NC_000002.10:g.55760341_55760342insTTGCTTCATATCAAATGATT	NCBI36
NG_033012.1:g.19208_19209insAATCATTTGATATGAAGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.658_659insAATCATTTGATATGAAGCAA MANE Select	ENSP00000400646.2:p.Gly220GlufsTer37
ENST00000260604.8:c.*213_*214insAATCATTTGATATGAAGCAA	ENSP00000260604.4:n.*213_*214insAATCATTTGATATGAAGCAA
ENST00000415374.5:c.658_659insAATCATTTGATATGAAGCAA	ENSP00000393953.1:p.Gly220GlufsTer37
ENST00000429805.1:c.*306_*307insAATCATTTGATATGAAGCAA	ENSP00000411994.1:n.*306_*307insAATCATTTGATATGAAGCAA
ENST00000447944.6:c.658_659insAATCATTTGATATGAAGCAA	ENSP00000400646.2:p.Gly220GlufsTer37
NM_033109.4:c.658_659insAATCATTTGATATGAAGCAA	NP_149100.2:p.Gly220GlufsTer37
XM_005264629.1:c.418_419insAATCATTTGATATGAAGCAA	XP_005264686.1:p.Gly140GlufsTer37
XM_011533142.1:c.658_659insAATCATTTGATATGAAGCAA	XP_011531444.1:p.Gly220GlufsTer37
XM_005264629.2:c.418_419insAATCATTTGATATGAAGCAA	XP_005264686.1:p.Gly140GlufsTer37
XM_017005172.1:c.418_419insAATCATTTGATATGAAGCAA	XP_016860661.1:p.Gly140GlufsTer37
XR_001739010.1:n.688_689insAATCATTTGATATGAAGCAA
NM_033109.5:c.658_659insAATCATTTGATATGAAGCAA MANE Select	NP_149100.2:p.Gly220GlufsTer37