Canonical Allele Identifier: CA1252384393

Gene: PNPT1

Linked Data

• dbSNP Id: rs1695890318

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643274del , CM000664.2:g.55643274del	GRCh38
NC_000002.11:g.55870409del , CM000664.1:g.55870409del	GRCh37
NC_000002.10:g.55723913del	NCBI36
NG_033012.1:g.55642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2013+50del MANE Select	ENSP00000400646.2:n.2013+50del
ENST00000260604.8:c.*1555+50del	ENSP00000260604.4:n.*1555+50del
ENST00000415374.5:c.2013+50del	ENSP00000393953.1:n.2013+50del
ENST00000447944.6:c.2013+50del	ENSP00000400646.2:n.2013+50del
ENST00000481066.1:n.1075+50del
NM_033109.4:c.2013+50del	NP_149100.2:n.2013+50del
XM_005264629.1:c.1773+50del	XP_005264686.1:n.1773+50del
XM_005264629.2:c.1773+50del	XP_005264686.1:n.1773+50del
XM_017005172.1:c.1773+50del	XP_016860661.1:n.1773+50del
NM_033109.5:c.2013+50del MANE Select	NP_149100.2:n.2013+50del