Canonical Allele Identifier: CA1252398358

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666983_55666984delinsTA , CM000664.2:g.55666983_55666984delinsTA	GRCh38
NC_000002.11:g.55894118_55894119delinsTA , CM000664.1:g.55894118_55894119delinsTA	GRCh37
NC_000002.10:g.55747622_55747623delinsTA	NCBI36
NG_033012.1:g.31927_31928delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+7_1176+8delinsTA MANE Select	ENSP00000400646.2:n.1176+7_1176+8delinsTA
ENST00000260604.8:c.*731+7_*731+8delinsTA	ENSP00000260604.4:n.*731+7_*731+8delinsTA
ENST00000415374.5:c.1176+7_1176+8delinsTA	ENSP00000393953.1:n.1176+7_1176+8delinsTA
ENST00000415489.1:c.250+7_250+8delinsTA
ENST00000447944.6:c.1176+7_1176+8delinsTA	ENSP00000400646.2:n.1176+7_1176+8delinsTA
NM_033109.4:c.1176+7_1176+8delinsTA	NP_149100.2:n.1176+7_1176+8delinsTA
XM_005264629.1:c.936+7_936+8delinsTA	XP_005264686.1:n.936+7_936+8delinsTA
XM_011533142.1:c.1176+7_1176+8delinsTA	XP_011531444.1:n.1176+7_1176+8delinsTA
XM_005264629.2:c.936+7_936+8delinsTA	XP_005264686.1:n.936+7_936+8delinsTA
XM_017005172.1:c.936+7_936+8delinsTA	XP_016860661.1:n.936+7_936+8delinsTA
XR_001739010.1:n.1206+7_1206+8delinsTA
NM_033109.5:c.1176+7_1176+8delinsTA MANE Select	NP_149100.2:n.1176+7_1176+8delinsTA