Canonical Allele Identifier: CA1164245647

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078838_40078851delinsTCTAAAAAACAAAA , CM000663.2:g.40078838_40078851delinsTCTAAAAAACAAAA	GRCh38
NC_000001.10:g.40544510_40544523delinsTCTAAAAAACAAAA , CM000663.1:g.40544510_40544523delinsTCTAAAAAACAAAA	GRCh37
NC_000001.9:g.40317097_40317110delinsTCTAAAAAACAAAA	NCBI36
NG_009192.1:g.23620_23633delinsTTTTGTTTTTTAGA , LRG_690:g.23620_23633delinsTTTTGTTTTTTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-193_625-180delinsTTTTGTTTTTTAGA	ENSP00000394863.4:n.625-193_625-180delinsTTTTGTTTTTTAGA
ENST00000439754.6:c.628-193_628-180delinsTTTTGTTTTTTAGA	ENSP00000403207.2:n.628-193_628-180delinsTTTTGTTTTTTAGA
ENST00000449045.7:c.319-193_319-180delinsTTTTGTTTTTTAGA	ENSP00000392293.2:n.319-193_319-180delinsTTTTGTTTTTTAGA
ENST00000527311.7:c.397-193_397-180delinsTTTTGTTTTTTAGA	ENSP00000436695.3:n.397-193_397-180delinsTTTTGTTTTTTAGA
ENST00000530076.6:c.-30-193_-30-180delinsTTTTGTTTTTTAGA	ENSP00000434007.1:n.-30-193_-30-180delinsTTTTGTTTTTTAGA
ENST00000530704.6:c.*251-193_*251-180delinsTTTTGTTTTTTAGA	ENSP00000431655.1:n.*251-193_*251-180delinsTTTTGTTTTTTAGA
ENST00000641083.1:c.606-193_606-180delinsTTTTGTTTTTTAGA
ENST00000641236.1:n.865-193_865-180delinsTTTTGTTTTTTAGA
ENST00000641319.1:c.628-193_628-180delinsTTTTGTTTTTTAGA	ENSP00000493128.1:n.628-193_628-180delinsTTTTGTTTTTTAGA
ENST00000641381.1:c.149-1938_149-1925delinsTTTTGTTTTTTAGA
ENST00000641471.1:c.715-193_715-180delinsTTTTGTTTTTTAGA	ENSP00000493146.1:n.715-193_715-180delinsTTTTGTTTTTTAGA
ENST00000641691.1:c.*480-193_*480-180delinsTTTTGTTTTTTAGA	ENSP00000492910.1:n.*480-193_*480-180delinsTTTTGTTTTTTAGA
ENST00000641924.1:c.*57-193_*57-180delinsTTTTGTTTTTTAGA	ENSP00000493063.1:n.*57-193_*57-180delinsTTTTGTTTTTTAGA
ENST00000642050.2:c.628-193_628-180delinsTTTTGTTTTTTAGA MANE Select	ENSP00000493153.1:n.628-193_628-180delinsTTTTGTTTTTTAGA
ENST00000372779.8:c.715-193_715-180delinsTTTTGTTTTTTAGA	ENSP00000361865.4:n.715-193_715-180delinsTTTTGTTTTTTAGA
ENST00000433473.7:c.628-193_628-180delinsTTTTGTTTTTTAGA	ENSP00000394863.3:n.628-193_628-180delinsTTTTGTTTTTTAGA
ENST00000439754.5:c.313-193_313-180delinsTTTTGTTTTTTAGA	ENSP00000403207.1:n.313-193_313-180delinsTTTTGTTTTTTAGA
ENST00000449045.6:c.319-193_319-180delinsTTTTGTTTTTTAGA	ENSP00000392293.2:n.319-193_319-180delinsTTTTGTTTTTTAGA
ENST00000527311.6:c.403-193_403-180delinsTTTTGTTTTTTAGA	ENSP00000436695.2:n.403-193_403-180delinsTTTTGTTTTTTAGA
ENST00000529905.5:c.628-193_628-180delinsTTTTGTTTTTTAGA	ENSP00000432053.1:n.628-193_628-180delinsTTTTGTTTTTTAGA
ENST00000530076.5:c.-30-193_-30-180delinsTTTTGTTTTTTAGA	ENSP00000434007.1:n.-30-193_-30-180delinsTTTTGTTTTTTAGA
ENST00000530704.5:c.*251-193_*251-180delinsTTTTGTTTTTTAGA	ENSP00000431655.1:n.*251-193_*251-180delinsTTTTGTTTTTTAGA
NM_000310.3:c.628-193_628-180delinsTTTTGTTTTTTAGA , LRG_690t1:c.628-193_628-180delinsTTTTGTTTTTTAGA	NP_000301.1:n.628-193_628-180delinsTTTTGTTTTTTAGA
NM_001142604.1:c.319-193_319-180delinsTTTTGTTTTTTAGA	NP_001136076.1:n.319-193_319-180delinsTTTTGTTTTTTAGA
XM_005271008.1:c.628-193_628-180delinsTTTTGTTTTTTAGA	XP_005271065.1:n.628-193_628-180delinsTTTTGTTTTTTAGA
NM_001363695.1:c.628-193_628-180delinsTTTTGTTTTTTAGA	NP_001350624.1:n.628-193_628-180delinsTTTTGTTTTTTAGA
NM_000310.4:c.628-193_628-180delinsTTTTGTTTTTTAGA MANE Select	NP_000301.1:n.628-193_628-180delinsTTTTGTTTTTTAGA
NM_001142604.2:c.319-193_319-180delinsTTTTGTTTTTTAGA	NP_001136076.1:n.319-193_319-180delinsTTTTGTTTTTTAGA
NM_001363695.2:c.628-193_628-180delinsTTTTGTTTTTTAGA	NP_001350624.1:n.628-193_628-180delinsTTTTGTTTTTTAGA