Canonical Allele Identifier: CA2659132934

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55666964-ATAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666967_55666970del , CM000664.2:g.55666967_55666970del	GRCh38
NC_000002.11:g.55894102_55894105del , CM000664.1:g.55894102_55894105del	GRCh37
NC_000002.10:g.55747606_55747609del	NCBI36
NG_033012.1:g.31943_31946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+23_1176+26del MANE Select	ENSP00000400646.2:n.1176+23_1176+26del
ENST00000260604.8:c.*731+23_*731+26del	ENSP00000260604.4:n.*731+23_*731+26del
ENST00000415374.5:c.1176+23_1176+26del	ENSP00000393953.1:n.1176+23_1176+26del
ENST00000415489.1:c.250+23_250+26del
ENST00000447944.6:c.1176+23_1176+26del	ENSP00000400646.2:n.1176+23_1176+26del
NM_033109.4:c.1176+23_1176+26del	NP_149100.2:n.1176+23_1176+26del
XM_005264629.1:c.936+23_936+26del	XP_005264686.1:n.936+23_936+26del
XM_011533142.1:c.1176+23_1176+26del	XP_011531444.1:n.1176+23_1176+26del
XM_005264629.2:c.936+23_936+26del	XP_005264686.1:n.936+23_936+26del
XM_017005172.1:c.936+23_936+26del	XP_016860661.1:n.936+23_936+26del
XR_001739010.1:n.1206+23_1206+26del
NM_033109.5:c.1176+23_1176+26del MANE Select	NP_149100.2:n.1176+23_1176+26del