Canonical Allele Identifier: CA1252401280

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672470_55672475delinsCAAATA , CM000664.2:g.55672470_55672475delinsCAAATA	GRCh38
NC_000002.11:g.55899605_55899610delinsCAAATA , CM000664.1:g.55899605_55899610delinsCAAATA	GRCh37
NC_000002.10:g.55753109_55753114delinsCAAATA	NCBI36
NG_033012.1:g.26436_26441delinsTATTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.866+418_867-424delinsTATTTG MANE Select	ENSP00000400646.2:n.866+418_867-424delinsTATTTG
ENST00000260604.8:c.*421+418_*422-424delinsTATTTG	ENSP00000260604.4:n.*421+418_*422-424delinsTATTTG
ENST00000415374.5:c.866+418_867-424delinsTATTTG	ENSP00000393953.1:n.866+418_867-424delinsTATTTG
ENST00000447944.6:c.866+418_867-424delinsTATTTG	ENSP00000400646.2:n.866+418_867-424delinsTATTTG
NM_033109.4:c.866+418_867-424delinsTATTTG	NP_149100.2:n.866+418_867-424delinsTATTTG
XM_005264629.1:c.626+418_627-424delinsTATTTG	XP_005264686.1:n.626+418_627-424delinsTATTTG
XM_011533142.1:c.866+418_867-424delinsTATTTG	XP_011531444.1:n.866+418_867-424delinsTATTTG
XM_005264629.2:c.626+418_627-424delinsTATTTG	XP_005264686.1:n.626+418_627-424delinsTATTTG
XM_017005172.1:c.626+418_627-424delinsTATTTG	XP_016860661.1:n.626+418_627-424delinsTATTTG
XR_001739010.1:n.896+418_897-424delinsTATTTG
NM_033109.5:c.866+418_867-424delinsTATTTG MANE Select	NP_149100.2:n.866+418_867-424delinsTATTTG