Canonical Allele Identifier: CA1252401112

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672135_55672139delinsTAATC , CM000664.2:g.55672135_55672139delinsTAATC	GRCh38
NC_000002.11:g.55899270_55899274delinsTAATC , CM000664.1:g.55899270_55899274delinsTAATC	GRCh37
NC_000002.10:g.55752774_55752778delinsTAATC	NCBI36
NG_033012.1:g.26772_26776delinsGATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-93_867-89delinsGATTA MANE Select	ENSP00000400646.2:n.867-93_867-89delinsGATTA
ENST00000260604.8:c.*422-93_*422-89delinsGATTA	ENSP00000260604.4:n.*422-93_*422-89delinsGATTA
ENST00000415374.5:c.867-93_867-89delinsGATTA	ENSP00000393953.1:n.867-93_867-89delinsGATTA
ENST00000447944.6:c.867-93_867-89delinsGATTA	ENSP00000400646.2:n.867-93_867-89delinsGATTA
NM_033109.4:c.867-93_867-89delinsGATTA	NP_149100.2:n.867-93_867-89delinsGATTA
XM_005264629.1:c.627-93_627-89delinsGATTA	XP_005264686.1:n.627-93_627-89delinsGATTA
XM_011533142.1:c.867-93_867-89delinsGATTA	XP_011531444.1:n.867-93_867-89delinsGATTA
XM_005264629.2:c.627-93_627-89delinsGATTA	XP_005264686.1:n.627-93_627-89delinsGATTA
XM_017005172.1:c.627-93_627-89delinsGATTA	XP_016860661.1:n.627-93_627-89delinsGATTA
XR_001739010.1:n.897-93_897-89delinsGATTA
NM_033109.5:c.867-93_867-89delinsGATTA MANE Select	NP_149100.2:n.867-93_867-89delinsGATTA