Canonical Allele Identifier: CA2659134459

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55681039-GGCTGTCATTAAACGAAAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55681043_55681060del , CM000664.2:g.55681043_55681060del	GRCh38
NC_000002.11:g.55908178_55908195del , CM000664.1:g.55908178_55908195del	GRCh37
NC_000002.10:g.55761682_55761699del	NCBI36
NG_033012.1:g.17854_17871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.454-139_454-122del MANE Select	ENSP00000400646.2:n.454-139_454-122del
ENST00000260604.8:c.454-139_454-122del	ENSP00000260604.4:n.454-139_454-122del
ENST00000415374.5:c.454-139_454-122del	ENSP00000393953.1:n.454-139_454-122del
ENST00000429805.1:c.*102-139_*102-122del	ENSP00000411994.1:n.*102-139_*102-122del
ENST00000447944.6:c.454-139_454-122del	ENSP00000400646.2:n.454-139_454-122del
NM_033109.4:c.454-139_454-122del	NP_149100.2:n.454-139_454-122del
XM_005264629.1:c.214-139_214-122del	XP_005264686.1:n.214-139_214-122del
XM_011533142.1:c.454-139_454-122del	XP_011531444.1:n.454-139_454-122del
XM_005264629.2:c.214-139_214-122del	XP_005264686.1:n.214-139_214-122del
XM_017005172.1:c.214-139_214-122del	XP_016860661.1:n.214-139_214-122del
XR_001739010.1:n.484-139_484-122del
NM_033109.5:c.454-139_454-122del MANE Select	NP_149100.2:n.454-139_454-122del