Canonical Allele Identifier: CA532793708

Gene: PNPT1

Linked Data

• dbSNP Id: rs1367510168
• gnomAD v2: 2-55893991-GA-G
• gnomAD v3: 2-55666856-GA-G
• gnomAD v4: 2-55666856-GA-G
• MyVariant Identifiers: chr2:g.55893992del (hg19) ; chr2:g.55666857del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666858del , CM000664.2:g.55666858del	GRCh38
NC_000002.11:g.55893993del , CM000664.1:g.55893993del	GRCh37
NC_000002.10:g.55747497del	NCBI36
NG_033012.1:g.32054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+134del MANE Select	ENSP00000400646.2:n.1176+134del
ENST00000260604.8:c.*731+134del	ENSP00000260604.4:n.*731+134del
ENST00000415374.5:c.1176+134del	ENSP00000393953.1:n.1176+134del
ENST00000415489.1:c.250+134del
ENST00000447944.6:c.1176+134del	ENSP00000400646.2:n.1176+134del
NM_033109.4:c.1176+134del	NP_149100.2:n.1176+134del
XM_005264629.1:c.936+134del	XP_005264686.1:n.936+134del
XM_011533142.1:c.1176+134del	XP_011531444.1:n.1176+134del
XM_005264629.2:c.936+134del	XP_005264686.1:n.936+134del
XM_017005172.1:c.936+134del	XP_016860661.1:n.936+134del
XR_001739010.1:n.1206+134del
NM_033109.5:c.1176+134del MANE Select	NP_149100.2:n.1176+134del