Canonical Allele Identifier: CA1252401191

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672285_55672288delinsTTTC , CM000664.2:g.55672285_55672288delinsTTTC	GRCh38
NC_000002.11:g.55899420_55899423delinsTTTC , CM000664.1:g.55899420_55899423delinsTTTC	GRCh37
NC_000002.10:g.55752924_55752927delinsTTTC	NCBI36
NG_033012.1:g.26623_26626delinsGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-242_867-239delinsGAAA MANE Select	ENSP00000400646.2:n.867-242_867-239delinsGAAA
ENST00000260604.8:c.*422-242_*422-239delinsGAAA	ENSP00000260604.4:n.*422-242_*422-239delinsGAAA
ENST00000415374.5:c.867-242_867-239delinsGAAA	ENSP00000393953.1:n.867-242_867-239delinsGAAA
ENST00000447944.6:c.867-242_867-239delinsGAAA	ENSP00000400646.2:n.867-242_867-239delinsGAAA
NM_033109.4:c.867-242_867-239delinsGAAA	NP_149100.2:n.867-242_867-239delinsGAAA
XM_005264629.1:c.627-242_627-239delinsGAAA	XP_005264686.1:n.627-242_627-239delinsGAAA
XM_011533142.1:c.867-242_867-239delinsGAAA	XP_011531444.1:n.867-242_867-239delinsGAAA
XM_005264629.2:c.627-242_627-239delinsGAAA	XP_005264686.1:n.627-242_627-239delinsGAAA
XM_017005172.1:c.627-242_627-239delinsGAAA	XP_016860661.1:n.627-242_627-239delinsGAAA
XR_001739010.1:n.897-242_897-239delinsGAAA
NM_033109.5:c.867-242_867-239delinsGAAA MANE Select	NP_149100.2:n.867-242_867-239delinsGAAA