Canonical Allele Identifier: CA1252401039

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55671994_55671995delinsCT , CM000664.2:g.55671994_55671995delinsCT	GRCh38
NC_000002.11:g.55899129_55899130delinsCT , CM000664.1:g.55899129_55899130delinsCT	GRCh37
NC_000002.10:g.55752633_55752634delinsCT	NCBI36
NG_033012.1:g.26916_26917delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.918_918+1delinsAG
ENST00000260604.8:c.*473_*473+1delinsAG
ENST00000415374.5:c.918_918+1delinsAG
ENST00000447944.6:c.918_918+1delinsAG
NM_033109.4:c.918_918+1delinsAG
XM_005264629.1:c.678_678+1delinsAG
XM_011533142.1:c.918_918+1delinsAG
XM_005264629.2:c.678_678+1delinsAG
XM_017005172.1:c.678_678+1delinsAG
XR_001739010.1:n.948_948+1delinsAG
NM_033109.5:c.918_918+1delinsAG