Canonical Allele Identifier: CA2750012779

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672162_55672163insACAA , CM000664.2:g.55672162_55672163insACAA	GRCh38
NC_000002.11:g.55899297_55899298insACAA , CM000664.1:g.55899297_55899298insACAA	GRCh37
NC_000002.10:g.55752801_55752802insACAA	NCBI36
NG_033012.1:g.26748_26749insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-117_867-116insTTGT MANE Select	ENSP00000400646.2:n.867-117_867-116insTTGT
ENST00000260604.8:c.*422-117_*422-116insTTGT	ENSP00000260604.4:n.*422-117_*422-116insTTGT
ENST00000415374.5:c.867-117_867-116insTTGT	ENSP00000393953.1:n.867-117_867-116insTTGT
ENST00000447944.6:c.867-117_867-116insTTGT	ENSP00000400646.2:n.867-117_867-116insTTGT
NM_033109.4:c.867-117_867-116insTTGT	NP_149100.2:n.867-117_867-116insTTGT
XM_005264629.1:c.627-117_627-116insTTGT	XP_005264686.1:n.627-117_627-116insTTGT
XM_011533142.1:c.867-117_867-116insTTGT	XP_011531444.1:n.867-117_867-116insTTGT
XM_005264629.2:c.627-117_627-116insTTGT	XP_005264686.1:n.627-117_627-116insTTGT
XM_017005172.1:c.627-117_627-116insTTGT	XP_016860661.1:n.627-117_627-116insTTGT
XR_001739010.1:n.897-117_897-116insTTGT
NM_033109.5:c.867-117_867-116insTTGT MANE Select	NP_149100.2:n.867-117_867-116insTTGT