Canonical Allele Identifier: CA1164245645

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078829_40078831delinsTTC , CM000663.2:g.40078829_40078831delinsTTC	GRCh38
NC_000001.10:g.40544501_40544503delinsTTC , CM000663.1:g.40544501_40544503delinsTTC	GRCh37
NC_000001.9:g.40317088_40317090delinsTTC	NCBI36
NG_009192.1:g.23640_23642delinsGAA , LRG_690:g.23640_23642delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-173_625-171delinsGAA	ENSP00000394863.4:n.625-173_625-171delinsGAA
ENST00000439754.6:c.628-173_628-171delinsGAA	ENSP00000403207.2:n.628-173_628-171delinsGAA
ENST00000449045.7:c.319-173_319-171delinsGAA	ENSP00000392293.2:n.319-173_319-171delinsGAA
ENST00000527311.7:c.397-173_397-171delinsGAA	ENSP00000436695.3:n.397-173_397-171delinsGAA
ENST00000530076.6:c.-30-173_-30-171delinsGAA	ENSP00000434007.1:n.-30-173_-30-171delinsGAA
ENST00000530704.6:c.*251-173_*251-171delinsGAA	ENSP00000431655.1:n.*251-173_*251-171delinsGAA
ENST00000641083.1:c.606-173_606-171delinsGAA
ENST00000641236.1:n.865-173_865-171delinsGAA
ENST00000641319.1:c.628-173_628-171delinsGAA	ENSP00000493128.1:n.628-173_628-171delinsGAA
ENST00000641381.1:c.149-1918_149-1916delinsGAA
ENST00000641471.1:c.715-173_715-171delinsGAA	ENSP00000493146.1:n.715-173_715-171delinsGAA
ENST00000641691.1:c.*480-173_*480-171delinsGAA	ENSP00000492910.1:n.*480-173_*480-171delinsGAA
ENST00000641924.1:c.*57-173_*57-171delinsGAA	ENSP00000493063.1:n.*57-173_*57-171delinsGAA
ENST00000642050.2:c.628-173_628-171delinsGAA MANE Select	ENSP00000493153.1:n.628-173_628-171delinsGAA
ENST00000372775.2:n.5_7delinsGAA
ENST00000372779.8:c.715-173_715-171delinsGAA	ENSP00000361865.4:n.715-173_715-171delinsGAA
ENST00000433473.7:c.628-173_628-171delinsGAA	ENSP00000394863.3:n.628-173_628-171delinsGAA
ENST00000439754.5:c.313-173_313-171delinsGAA	ENSP00000403207.1:n.313-173_313-171delinsGAA
ENST00000449045.6:c.319-173_319-171delinsGAA	ENSP00000392293.2:n.319-173_319-171delinsGAA
ENST00000527311.6:c.403-173_403-171delinsGAA	ENSP00000436695.2:n.403-173_403-171delinsGAA
ENST00000529905.5:c.628-173_628-171delinsGAA	ENSP00000432053.1:n.628-173_628-171delinsGAA
ENST00000530076.5:c.-30-173_-30-171delinsGAA	ENSP00000434007.1:n.-30-173_-30-171delinsGAA
ENST00000530704.5:c.*251-173_*251-171delinsGAA	ENSP00000431655.1:n.*251-173_*251-171delinsGAA
NM_000310.3:c.628-173_628-171delinsGAA , LRG_690t1:c.628-173_628-171delinsGAA	NP_000301.1:n.628-173_628-171delinsGAA
NM_001142604.1:c.319-173_319-171delinsGAA	NP_001136076.1:n.319-173_319-171delinsGAA
XM_005271008.1:c.628-173_628-171delinsGAA	XP_005271065.1:n.628-173_628-171delinsGAA
NM_001363695.1:c.628-173_628-171delinsGAA	NP_001350624.1:n.628-173_628-171delinsGAA
NM_000310.4:c.628-173_628-171delinsGAA MANE Select	NP_000301.1:n.628-173_628-171delinsGAA
NM_001142604.2:c.319-173_319-171delinsGAA	NP_001136076.1:n.319-173_319-171delinsGAA
NM_001363695.2:c.628-173_628-171delinsGAA	NP_001350624.1:n.628-173_628-171delinsGAA