Canonical Allele Identifier: CA2659132398

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55647258-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647259_55647260insGT , CM000664.2:g.55647259_55647260insGT	GRCh38
NC_000002.11:g.55874394_55874395insGT , CM000664.1:g.55874394_55874395insGT	GRCh37
NC_000002.10:g.55727898_55727899insGT	NCBI36
NG_033012.1:g.51652_51653insCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1602+88_1602+89insCA MANE Select	ENSP00000400646.2:n.1602+88_1602+89insCA
ENST00000260604.8:c.*1157+88_*1157+89insCA	ENSP00000260604.4:n.*1157+88_*1157+89insCA
ENST00000415374.5:c.1602+88_1602+89insCA	ENSP00000393953.1:n.1602+88_1602+89insCA
ENST00000447944.6:c.1602+88_1602+89insCA	ENSP00000400646.2:n.1602+88_1602+89insCA
ENST00000481066.1:n.36+88_36+89insCA
NM_033109.4:c.1602+88_1602+89insCA	NP_149100.2:n.1602+88_1602+89insCA
XM_005264629.1:c.1362+88_1362+89insCA	XP_005264686.1:n.1362+88_1362+89insCA
XM_005264629.2:c.1362+88_1362+89insCA	XP_005264686.1:n.1362+88_1362+89insCA
XM_017005172.1:c.1362+88_1362+89insCA	XP_016860661.1:n.1362+88_1362+89insCA
XR_001739010.1:n.1679+88_1679+89insCA
NM_033109.5:c.1602+88_1602+89insCA MANE Select	NP_149100.2:n.1602+88_1602+89insCA