Canonical Allele Identifier: CA1252405671

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680807_55680808delinsTA , CM000664.2:g.55680807_55680808delinsTA	GRCh38
NC_000002.11:g.55907942_55907943delinsTA , CM000664.1:g.55907942_55907943delinsTA	GRCh37
NC_000002.10:g.55761446_55761447delinsTA	NCBI36
NG_033012.1:g.18103_18104delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.517+47_518-48delinsTA MANE Select	ENSP00000400646.2:n.517+47_518-48delinsTA
ENST00000260604.8:c.*24_*25delinsTA	ENSP00000260604.4:n.*24_*25delinsTA
ENST00000415374.5:c.517+47_518-48delinsTA	ENSP00000393953.1:n.517+47_518-48delinsTA
ENST00000429805.1:c.*165+47_*166-48delinsTA	ENSP00000411994.1:n.*165+47_*166-48delinsTA
ENST00000447944.6:c.517+47_518-48delinsTA	ENSP00000400646.2:n.517+47_518-48delinsTA
NM_033109.4:c.517+47_518-48delinsTA	NP_149100.2:n.517+47_518-48delinsTA
XM_005264629.1:c.277+47_278-48delinsTA	XP_005264686.1:n.277+47_278-48delinsTA
XM_011533142.1:c.517+47_518-48delinsTA	XP_011531444.1:n.517+47_518-48delinsTA
XM_005264629.2:c.277+47_278-48delinsTA	XP_005264686.1:n.277+47_278-48delinsTA
XM_017005172.1:c.277+47_278-48delinsTA	XP_016860661.1:n.277+47_278-48delinsTA
XR_001739010.1:n.547+47_548-48delinsTA
NM_033109.5:c.517+47_518-48delinsTA MANE Select	NP_149100.2:n.517+47_518-48delinsTA