Canonical Allele Identifier: CA417322828

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40557833_40557834insGAAC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092161_40092162insGAAC , CM000663.2:g.40092161_40092162insGAAC	GRCh38
NC_000001.10:g.40557833_40557834insGAAC , CM000663.1:g.40557833_40557834insGAAC	GRCh37
NC_000001.9:g.40330420_40330421insGAAC	NCBI36
NG_009192.1:g.10309_10310insGTTC , LRG_690:g.10309_10310insGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*81_*82insGTTC	ENSP00000361865.5:n.*81_*82insGTTC
ENST00000433473.8:c.242_243insGTTC	ENSP00000394863.4:p.Asn81LysfsTer21
ENST00000439754.6:c.245_246insGTTC	ENSP00000403207.2:p.Asn82LysfsTer21
ENST00000449045.7:c.125-2650_125-2649insGTTC	ENSP00000392293.2:n.125-2650_125-2649insGTTC
ENST00000526547.2:c.525_526insGTTC
ENST00000527311.7:c.234+236_234+237insGTTC	ENSP00000436695.3:n.234+236_234+237insGTTC
ENST00000530704.6:c.245_246insGTTC	ENSP00000431655.1:p.Asn82LysfsTer21
ENST00000641083.1:c.223_224insGTTC
ENST00000641236.1:n.482_483insGTTC
ENST00000641319.1:c.245_246insGTTC	ENSP00000493128.1:p.Asn82LysfsTer21
ENST00000641471.1:c.332_333insGTTC	ENSP00000493146.1:p.Asn111LysfsTer21
ENST00000641548.1:c.*97_*98insGTTC	ENSP00000492984.1:n.*97_*98insGTTC
ENST00000641691.1:c.*97_*98insGTTC	ENSP00000492910.1:n.*97_*98insGTTC
ENST00000641924.1:c.124+4953_124+4954insGTTC	ENSP00000493063.1:n.124+4953_124+4954insGTTC
ENST00000642050.2:c.245_246insGTTC MANE Select	ENSP00000493153.1:p.Asn82LysfsTer21
ENST00000372779.8:c.332_333insGTTC	ENSP00000361865.4:p.Asn111LysfsTer21
ENST00000433473.7:c.245_246insGTTC	ENSP00000394863.3:p.Asn82LysfsTer21
ENST00000449045.6:c.125-2650_125-2649insGTTC	ENSP00000392293.2:n.125-2650_125-2649insGTTC
ENST00000526547.1:c.95_96insGTTC	ENSP00000436481.1:p.Asn32LysfsTer21
ENST00000527311.6:c.125-105_125-104insGTTC	ENSP00000436695.2:n.125-105_125-104insGTTC
ENST00000529905.5:c.245_246insGTTC	ENSP00000432053.1:p.Asn82LysfsTer21
ENST00000530704.5:c.245_246insGTTC	ENSP00000431655.1:p.Asn82LysfsTer21
NM_000310.3:c.245_246insGTTC , LRG_690t1:c.245_246insGTTC	NP_000301.1:p.Asn82LysfsTer21
NM_001142604.1:c.125-2650_125-2649insGTTC	NP_001136076.1:n.125-2650_125-2649insGTTC
XM_005271008.1:c.245_246insGTTC	XP_005271065.1:p.Asn82LysfsTer21
NM_001363695.1:c.245_246insGTTC	NP_001350624.1:p.Asn82LysfsTer21
NM_000310.4:c.245_246insGTTC MANE Select	NP_000301.1:p.Asn82LysfsTer21
NM_001142604.2:c.125-2650_125-2649insGTTC	NP_001136076.1:n.125-2650_125-2649insGTTC
NM_001363695.2:c.245_246insGTTC	NP_001350624.1:p.Asn82LysfsTer21