Canonical Allele Identifier: CA1252384372

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643258_55643259delinsAC , CM000664.2:g.55643258_55643259delinsAC	GRCh38
NC_000002.11:g.55870393_55870394delinsAC , CM000664.1:g.55870393_55870394delinsAC	GRCh37
NC_000002.10:g.55723897_55723898delinsAC	NCBI36
NG_033012.1:g.55652_55653delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2014-46_2014-45delinsGT MANE Select	ENSP00000400646.2:n.2014-46_2014-45delinsGT
ENST00000260604.8:c.*1556-46_*1556-45delinsGT	ENSP00000260604.4:n.*1556-46_*1556-45delinsGT
ENST00000415374.5:c.2014-46_2014-45delinsGT	ENSP00000393953.1:n.2014-46_2014-45delinsGT
ENST00000447944.6:c.2014-46_2014-45delinsGT	ENSP00000400646.2:n.2014-46_2014-45delinsGT
ENST00000481066.1:n.1076-46_1076-45delinsGT
NM_033109.4:c.2014-46_2014-45delinsGT	NP_149100.2:n.2014-46_2014-45delinsGT
XM_005264629.1:c.1774-46_1774-45delinsGT	XP_005264686.1:n.1774-46_1774-45delinsGT
XM_005264629.2:c.1774-46_1774-45delinsGT	XP_005264686.1:n.1774-46_1774-45delinsGT
XM_017005172.1:c.1774-46_1774-45delinsGT	XP_016860661.1:n.1774-46_1774-45delinsGT
NM_033109.5:c.2014-46_2014-45delinsGT MANE Select	NP_149100.2:n.2014-46_2014-45delinsGT