Canonical Allele Identifier: CA1030917411

Gene: PNPT1

Linked Data

• dbSNP Id: rs1696747740
• gnomAD v3: 2-55666879-TAAATA-T
• gnomAD v4: 2-55666879-TAAATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666881_55666885del , CM000664.2:g.55666881_55666885del	GRCh38
NC_000002.11:g.55894016_55894020del , CM000664.1:g.55894016_55894020del	GRCh37
NC_000002.10:g.55747520_55747524del	NCBI36
NG_033012.1:g.32027_32031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176+107_1176+111del MANE Select	ENSP00000400646.2:n.1176+107_1176+111del
ENST00000260604.8:c.*731+107_*731+111del	ENSP00000260604.4:n.*731+107_*731+111del
ENST00000415374.5:c.1176+107_1176+111del	ENSP00000393953.1:n.1176+107_1176+111del
ENST00000415489.1:c.250+107_250+111del
ENST00000447944.6:c.1176+107_1176+111del	ENSP00000400646.2:n.1176+107_1176+111del
NM_033109.4:c.1176+107_1176+111del	NP_149100.2:n.1176+107_1176+111del
XM_005264629.1:c.936+107_936+111del	XP_005264686.1:n.936+107_936+111del
XM_011533142.1:c.1176+107_1176+111del	XP_011531444.1:n.1176+107_1176+111del
XM_005264629.2:c.936+107_936+111del	XP_005264686.1:n.936+107_936+111del
XM_017005172.1:c.936+107_936+111del	XP_016860661.1:n.936+107_936+111del
XR_001739010.1:n.1206+107_1206+111del
NM_033109.5:c.1176+107_1176+111del MANE Select	NP_149100.2:n.1176+107_1176+111del