Canonical Allele Identifier: CA2572825187
Gene: PNPT1 HGNC NCBI

Linked Data

gnomAD v4: 2-55666914-TCTA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55666918_55666920del , CM000664.2:g.55666918_55666920del GRCh38
NC_000002.11:g.55894053_55894055del , CM000664.1:g.55894053_55894055del GRCh37
NC_000002.10:g.55747557_55747559del NCBI36
NG_033012.1:g.31994_31996del

Transcript Alleles

HGVS Amino-acid change
ENST00000447944.7:c.1176+74_1176+76del MANE Select ENSP00000400646.2:n.1176+74_1176+76del
ENST00000260604.8:c.*731+74_*731+76del ENSP00000260604.4:n.*731+74_*731+76del
ENST00000415374.5:c.1176+74_1176+76del ENSP00000393953.1:n.1176+74_1176+76del
ENST00000415489.1:c.250+74_250+76del
ENST00000447944.6:c.1176+74_1176+76del ENSP00000400646.2:n.1176+74_1176+76del
NM_033109.4:c.1176+74_1176+76del NP_149100.2:n.1176+74_1176+76del
XM_005264629.1:c.936+74_936+76del XP_005264686.1:n.936+74_936+76del
XM_011533142.1:c.1176+74_1176+76del XP_011531444.1:n.1176+74_1176+76del
XM_005264629.2:c.936+74_936+76del XP_005264686.1:n.936+74_936+76del
XM_017005172.1:c.936+74_936+76del XP_016860661.1:n.936+74_936+76del
XR_001739010.1:n.1206+74_1206+76del
NM_033109.5:c.1176+74_1176+76del MANE Select NP_149100.2:n.1176+74_1176+76del
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