Canonical Allele Identifier: CA1030920576

Gene: PNPT1

Linked Data

• dbSNP Id: rs1696940259
• gnomAD v3: 2-55672291-CTTAA-C
• gnomAD v4: 2-55672291-CTTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672294_55672297del , CM000664.2:g.55672294_55672297del	GRCh38
NC_000002.11:g.55899429_55899432del , CM000664.1:g.55899429_55899432del	GRCh37
NC_000002.10:g.55752933_55752936del	NCBI36
NG_033012.1:g.26616_26619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-249_867-246del MANE Select	ENSP00000400646.2:n.867-249_867-246del
ENST00000260604.8:c.*422-249_*422-246del	ENSP00000260604.4:n.*422-249_*422-246del
ENST00000415374.5:c.867-249_867-246del	ENSP00000393953.1:n.867-249_867-246del
ENST00000447944.6:c.867-249_867-246del	ENSP00000400646.2:n.867-249_867-246del
NM_033109.4:c.867-249_867-246del	NP_149100.2:n.867-249_867-246del
XM_005264629.1:c.627-249_627-246del	XP_005264686.1:n.627-249_627-246del
XM_011533142.1:c.867-249_867-246del	XP_011531444.1:n.867-249_867-246del
XM_005264629.2:c.627-249_627-246del	XP_005264686.1:n.627-249_627-246del
XM_017005172.1:c.627-249_627-246del	XP_016860661.1:n.627-249_627-246del
XR_001739010.1:n.897-249_897-246del
NM_033109.5:c.867-249_867-246del MANE Select	NP_149100.2:n.867-249_867-246del