Canonical Allele Identifier: CA532797419

Gene: PNPT1

Linked Data

• dbSNP Id: rs1178218349
• gnomAD v2: 2-55906942-T-TGGG
• MyVariant Identifiers: chr2:g.55906942_55906943insGGG (hg19) ; chr2:g.55679807_55679808insGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679807_55679808insGGG , CM000664.2:g.55679807_55679808insGGG	GRCh38
NC_000002.11:g.55906942_55906943insGGG , CM000664.1:g.55906942_55906943insGGG	GRCh37
NC_000002.10:g.55760446_55760447insGGG	NCBI36
NG_033012.1:g.19103_19104insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.566-13_566-12insCCC MANE Select	ENSP00000400646.2:n.566-13_566-12insCCC
ENST00000260604.8:c.*121-13_*121-12insCCC	ENSP00000260604.4:n.*121-13_*121-12insCCC
ENST00000415374.5:c.566-13_566-12insCCC	ENSP00000393953.1:n.566-13_566-12insCCC
ENST00000429805.1:c.*214-13_*214-12insCCC	ENSP00000411994.1:n.*214-13_*214-12insCCC
ENST00000447944.6:c.566-13_566-12insCCC	ENSP00000400646.2:n.566-13_566-12insCCC
NM_033109.4:c.566-13_566-12insCCC	NP_149100.2:n.566-13_566-12insCCC
XM_005264629.1:c.326-13_326-12insCCC	XP_005264686.1:n.326-13_326-12insCCC
XM_011533142.1:c.566-13_566-12insCCC	XP_011531444.1:n.566-13_566-12insCCC
XM_005264629.2:c.326-13_326-12insCCC	XP_005264686.1:n.326-13_326-12insCCC
XM_017005172.1:c.326-13_326-12insCCC	XP_016860661.1:n.326-13_326-12insCCC
XR_001739010.1:n.596-13_596-12insCCC
NM_033109.5:c.566-13_566-12insCCC MANE Select	NP_149100.2:n.566-13_566-12insCCC