Canonical Allele Identifier: CA2561873556

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672022_55672023insAACAAAA , CM000664.2:g.55672022_55672023insAACAAAA	GRCh38
NC_000002.11:g.55899157_55899158insAACAAAA , CM000664.1:g.55899157_55899158insAACAAAA	GRCh37
NC_000002.10:g.55752661_55752662insAACAAAA	NCBI36
NG_033012.1:g.26888_26889insTTTTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.890_891insTTTTGTT MANE Select	ENSP00000400646.2:p.Val298PhefsTer10
ENST00000260604.8:c.*445_*446insTTTTGTT	ENSP00000260604.4:n.*445_*446insTTTTGTT
ENST00000415374.5:c.890_891insTTTTGTT	ENSP00000393953.1:p.Val298PhefsTer10
ENST00000447944.6:c.890_891insTTTTGTT	ENSP00000400646.2:p.Val298PhefsTer10
NM_033109.4:c.890_891insTTTTGTT	NP_149100.2:p.Val298PhefsTer10
XM_005264629.1:c.650_651insTTTTGTT	XP_005264686.1:p.Val218PhefsTer10
XM_011533142.1:c.890_891insTTTTGTT	XP_011531444.1:p.Val298PhefsTer10
XM_005264629.2:c.650_651insTTTTGTT	XP_005264686.1:p.Val218PhefsTer10
XM_017005172.1:c.650_651insTTTTGTT	XP_016860661.1:p.Val218PhefsTer10
XR_001739010.1:n.920_921insTTTTGTT
NM_033109.5:c.890_891insTTTTGTT MANE Select	NP_149100.2:p.Val298PhefsTer10