Canonical Allele Identifier: CA2659130744

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55643177-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643178_55643179del , CM000664.2:g.55643178_55643179del	GRCh38
NC_000002.11:g.55870313_55870314del , CM000664.1:g.55870313_55870314del	GRCh37
NC_000002.10:g.55723817_55723818del	NCBI36
NG_033012.1:g.55732_55733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2048_2049del MANE Select	ENSP00000400646.2:p.Thr683SerfsTer5
ENST00000260604.8:c.*1590_*1591del	ENSP00000260604.4:n.*1590_*1591del
ENST00000415374.5:c.2048_2049del	ENSP00000393953.1:p.Thr683SerfsTer5
ENST00000447944.6:c.2048_2049del	ENSP00000400646.2:p.Thr683SerfsTer5
ENST00000481066.1:n.1110_1111del
NM_033109.4:c.2048_2049del	NP_149100.2:p.Thr683SerfsTer5
XM_005264629.1:c.1808_1809del	XP_005264686.1:p.Thr603SerfsTer5
XM_005264629.2:c.1808_1809del	XP_005264686.1:p.Thr603SerfsTer5
XM_017005172.1:c.1808_1809del	XP_016860661.1:p.Thr603SerfsTer5
NM_033109.5:c.2048_2049del MANE Select	NP_149100.2:p.Thr683SerfsTer5