Canonical Allele Identifier: CA2659134403

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55680958-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680958_55680959insA , CM000664.2:g.55680958_55680959insA	GRCh38
NC_000002.11:g.55908093_55908094insA , CM000664.1:g.55908093_55908094insA	GRCh37
NC_000002.10:g.55761597_55761598insA	NCBI36
NG_033012.1:g.17952_17953insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.454-41_454-40insT MANE Select	ENSP00000400646.2:n.454-41_454-40insT
ENST00000260604.8:c.454-41_454-40insT	ENSP00000260604.4:n.454-41_454-40insT
ENST00000415374.5:c.454-41_454-40insT	ENSP00000393953.1:n.454-41_454-40insT
ENST00000429805.1:c.*102-41_*102-40insT	ENSP00000411994.1:n.*102-41_*102-40insT
ENST00000447944.6:c.454-41_454-40insT	ENSP00000400646.2:n.454-41_454-40insT
NM_033109.4:c.454-41_454-40insT	NP_149100.2:n.454-41_454-40insT
XM_005264629.1:c.214-41_214-40insT	XP_005264686.1:n.214-41_214-40insT
XM_011533142.1:c.454-41_454-40insT	XP_011531444.1:n.454-41_454-40insT
XM_005264629.2:c.214-41_214-40insT	XP_005264686.1:n.214-41_214-40insT
XM_017005172.1:c.214-41_214-40insT	XP_016860661.1:n.214-41_214-40insT
XR_001739010.1:n.484-41_484-40insT
NM_033109.5:c.454-41_454-40insT MANE Select	NP_149100.2:n.454-41_454-40insT