Canonical Allele Identifier: CA1252405823

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55681147_55681149delinsCTG , CM000664.2:g.55681147_55681149delinsCTG	GRCh38
NC_000002.11:g.55908282_55908284delinsCTG , CM000664.1:g.55908282_55908284delinsCTG	GRCh37
NC_000002.10:g.55761786_55761788delinsCTG	NCBI36
NG_033012.1:g.17762_17764delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.454-231_454-229delinsCAG MANE Select	ENSP00000400646.2:n.454-231_454-229delinsCAG
ENST00000260604.8:c.454-231_454-229delinsCAG	ENSP00000260604.4:n.454-231_454-229delinsCAG
ENST00000415374.5:c.454-231_454-229delinsCAG	ENSP00000393953.1:n.454-231_454-229delinsCAG
ENST00000429805.1:c.*102-231_*102-229delinsCAG	ENSP00000411994.1:n.*102-231_*102-229delinsCAG
ENST00000447944.6:c.454-231_454-229delinsCAG	ENSP00000400646.2:n.454-231_454-229delinsCAG
NM_033109.4:c.454-231_454-229delinsCAG	NP_149100.2:n.454-231_454-229delinsCAG
XM_005264629.1:c.214-231_214-229delinsCAG	XP_005264686.1:n.214-231_214-229delinsCAG
XM_011533142.1:c.454-231_454-229delinsCAG	XP_011531444.1:n.454-231_454-229delinsCAG
XM_005264629.2:c.214-231_214-229delinsCAG	XP_005264686.1:n.214-231_214-229delinsCAG
XM_017005172.1:c.214-231_214-229delinsCAG	XP_016860661.1:n.214-231_214-229delinsCAG
XR_001739010.1:n.484-231_484-229delinsCAG
NM_033109.5:c.454-231_454-229delinsCAG MANE Select	NP_149100.2:n.454-231_454-229delinsCAG