Canonical Allele Identifier: CA1252405799

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55681098_55681099delinsCT , CM000664.2:g.55681098_55681099delinsCT	GRCh38
NC_000002.11:g.55908233_55908234delinsCT , CM000664.1:g.55908233_55908234delinsCT	GRCh37
NC_000002.10:g.55761737_55761738delinsCT	NCBI36
NG_033012.1:g.17812_17813delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.454-181_454-180delinsAG MANE Select	ENSP00000400646.2:n.454-181_454-180delinsAG
ENST00000260604.8:c.454-181_454-180delinsAG	ENSP00000260604.4:n.454-181_454-180delinsAG
ENST00000415374.5:c.454-181_454-180delinsAG	ENSP00000393953.1:n.454-181_454-180delinsAG
ENST00000429805.1:c.*102-181_*102-180delinsAG	ENSP00000411994.1:n.*102-181_*102-180delinsAG
ENST00000447944.6:c.454-181_454-180delinsAG	ENSP00000400646.2:n.454-181_454-180delinsAG
NM_033109.4:c.454-181_454-180delinsAG	NP_149100.2:n.454-181_454-180delinsAG
XM_005264629.1:c.214-181_214-180delinsAG	XP_005264686.1:n.214-181_214-180delinsAG
XM_011533142.1:c.454-181_454-180delinsAG	XP_011531444.1:n.454-181_454-180delinsAG
XM_005264629.2:c.214-181_214-180delinsAG	XP_005264686.1:n.214-181_214-180delinsAG
XM_017005172.1:c.214-181_214-180delinsAG	XP_016860661.1:n.214-181_214-180delinsAG
XR_001739010.1:n.484-181_484-180delinsAG
NM_033109.5:c.454-181_454-180delinsAG MANE Select	NP_149100.2:n.454-181_454-180delinsAG