Canonical Allele Identifier: CA1252398293

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666856_55666857delinsGA , CM000664.2:g.55666856_55666857delinsGA	GRCh38
NC_000002.11:g.55893991_55893992delinsGA , CM000664.1:g.55893991_55893992delinsGA	GRCh37
NC_000002.10:g.55747495_55747496delinsGA	NCBI36
NG_033012.1:g.32054_32055delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+134_1176+135delinsTC MANE Select	ENSP00000400646.2:n.1176+134_1176+135delinsTC
ENST00000260604.8:c.*731+134_*731+135delinsTC	ENSP00000260604.4:n.*731+134_*731+135delinsTC
ENST00000415374.5:c.1176+134_1176+135delinsTC	ENSP00000393953.1:n.1176+134_1176+135delinsTC
ENST00000415489.1:c.250+134_250+135delinsTC
ENST00000447944.6:c.1176+134_1176+135delinsTC	ENSP00000400646.2:n.1176+134_1176+135delinsTC
NM_033109.4:c.1176+134_1176+135delinsTC	NP_149100.2:n.1176+134_1176+135delinsTC
XM_005264629.1:c.936+134_936+135delinsTC	XP_005264686.1:n.936+134_936+135delinsTC
XM_011533142.1:c.1176+134_1176+135delinsTC	XP_011531444.1:n.1176+134_1176+135delinsTC
XM_005264629.2:c.936+134_936+135delinsTC	XP_005264686.1:n.936+134_936+135delinsTC
XM_017005172.1:c.936+134_936+135delinsTC	XP_016860661.1:n.936+134_936+135delinsTC
XR_001739010.1:n.1206+134_1206+135delinsTC
NM_033109.5:c.1176+134_1176+135delinsTC MANE Select	NP_149100.2:n.1176+134_1176+135delinsTC