Canonical Allele Identifier: CA916157561

Gene: PPT1

Linked Data

• dbSNP Id: rs1570455160
• gnomAD v4: 1-40078838-TCTAAAAAACAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078839_40078851del , CM000663.2:g.40078839_40078851del	GRCh38
NC_000001.10:g.40544511_40544523del , CM000663.1:g.40544511_40544523del	GRCh37
NC_000001.9:g.40317098_40317110del	NCBI36
NG_009192.1:g.23620_23632del , LRG_690:g.23620_23632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-193_625-181del	ENSP00000394863.4:n.625-193_625-181del
ENST00000439754.6:c.628-193_628-181del	ENSP00000403207.2:n.628-193_628-181del
ENST00000449045.7:c.319-193_319-181del	ENSP00000392293.2:n.319-193_319-181del
ENST00000527311.7:c.397-193_397-181del	ENSP00000436695.3:n.397-193_397-181del
ENST00000530076.6:c.-30-193_-30-181del	ENSP00000434007.1:n.-30-193_-30-181del
ENST00000530704.6:c.*251-193_*251-181del	ENSP00000431655.1:n.*251-193_*251-181del
ENST00000641083.1:c.606-193_606-181del
ENST00000641236.1:n.865-193_865-181del
ENST00000641319.1:c.628-193_628-181del	ENSP00000493128.1:n.628-193_628-181del
ENST00000641381.1:c.149-1938_149-1926del
ENST00000641471.1:c.715-193_715-181del	ENSP00000493146.1:n.715-193_715-181del
ENST00000641691.1:c.*480-193_*480-181del	ENSP00000492910.1:n.*480-193_*480-181del
ENST00000641924.1:c.*57-193_*57-181del	ENSP00000493063.1:n.*57-193_*57-181del
ENST00000642050.2:c.628-193_628-181del MANE Select	ENSP00000493153.1:n.628-193_628-181del
ENST00000372779.8:c.715-193_715-181del	ENSP00000361865.4:n.715-193_715-181del
ENST00000433473.7:c.628-193_628-181del	ENSP00000394863.3:n.628-193_628-181del
ENST00000439754.5:c.313-193_313-181del	ENSP00000403207.1:n.313-193_313-181del
ENST00000449045.6:c.319-193_319-181del	ENSP00000392293.2:n.319-193_319-181del
ENST00000527311.6:c.403-193_403-181del	ENSP00000436695.2:n.403-193_403-181del
ENST00000529905.5:c.628-193_628-181del	ENSP00000432053.1:n.628-193_628-181del
ENST00000530076.5:c.-30-193_-30-181del	ENSP00000434007.1:n.-30-193_-30-181del
ENST00000530704.5:c.*251-193_*251-181del	ENSP00000431655.1:n.*251-193_*251-181del
NM_000310.3:c.628-193_628-181del , LRG_690t1:c.628-193_628-181del	NP_000301.1:n.628-193_628-181del
NM_001142604.1:c.319-193_319-181del	NP_001136076.1:n.319-193_319-181del
XM_005271008.1:c.628-193_628-181del	XP_005271065.1:n.628-193_628-181del
NM_001363695.1:c.628-193_628-181del	NP_001350624.1:n.628-193_628-181del
NM_000310.4:c.628-193_628-181del MANE Select	NP_000301.1:n.628-193_628-181del
NM_001142604.2:c.319-193_319-181del	NP_001136076.1:n.319-193_319-181del
NM_001363695.2:c.628-193_628-181del	NP_001350624.1:n.628-193_628-181del