Canonical Allele Identifier: CA2695694663

Gene: PPT1

Linked Data

• dbSNP Id: rs2124472484

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078753_40078760del , CM000663.2:g.40078753_40078760del	GRCh38
NC_000001.10:g.40544425_40544432del , CM000663.1:g.40544425_40544432del	GRCh37
NC_000001.9:g.40317012_40317019del	NCBI36
NG_009192.1:g.23716_23723del , LRG_690:g.23716_23723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-97_625-90del	ENSP00000394863.4:n.625-97_625-90del
ENST00000439754.6:c.628-97_628-90del	ENSP00000403207.2:n.628-97_628-90del
ENST00000449045.7:c.319-97_319-90del	ENSP00000392293.2:n.319-97_319-90del
ENST00000527311.7:c.397-97_397-90del	ENSP00000436695.3:n.397-97_397-90del
ENST00000530076.6:c.-30-97_-30-90del	ENSP00000434007.1:n.-30-97_-30-90del
ENST00000530704.6:c.*251-97_*251-90del	ENSP00000431655.1:n.*251-97_*251-90del
ENST00000641083.1:c.606-97_606-90del
ENST00000641236.1:n.865-97_865-90del
ENST00000641319.1:c.628-97_628-90del	ENSP00000493128.1:n.628-97_628-90del
ENST00000641381.1:c.149-1842_149-1835del
ENST00000641471.1:c.715-97_715-90del	ENSP00000493146.1:n.715-97_715-90del
ENST00000641691.1:c.*480-97_*480-90del	ENSP00000492910.1:n.*480-97_*480-90del
ENST00000641924.1:c.*57-97_*57-90del	ENSP00000493063.1:n.*57-97_*57-90del
ENST00000642050.2:c.628-97_628-90del MANE Select	ENSP00000493153.1:n.628-97_628-90del
ENST00000372775.2:n.24+57_24+64del
ENST00000372779.8:c.715-97_715-90del	ENSP00000361865.4:n.715-97_715-90del
ENST00000433473.7:c.628-97_628-90del	ENSP00000394863.3:n.628-97_628-90del
ENST00000439754.5:c.313-97_313-90del	ENSP00000403207.1:n.313-97_313-90del
ENST00000449045.6:c.319-97_319-90del	ENSP00000392293.2:n.319-97_319-90del
ENST00000527311.6:c.403-97_403-90del	ENSP00000436695.2:n.403-97_403-90del
ENST00000529905.5:c.628-97_628-90del	ENSP00000432053.1:n.628-97_628-90del
ENST00000530076.5:c.-30-97_-30-90del	ENSP00000434007.1:n.-30-97_-30-90del
ENST00000530704.5:c.*251-97_*251-90del	ENSP00000431655.1:n.*251-97_*251-90del
NM_000310.3:c.628-97_628-90del , LRG_690t1:c.628-97_628-90del	NP_000301.1:n.628-97_628-90del
NM_001142604.1:c.319-97_319-90del	NP_001136076.1:n.319-97_319-90del
XM_005271008.1:c.628-97_628-90del	XP_005271065.1:n.628-97_628-90del
NM_001363695.1:c.628-97_628-90del	NP_001350624.1:n.628-97_628-90del
NM_000310.4:c.628-97_628-90del MANE Select	NP_000301.1:n.628-97_628-90del
NM_001142604.2:c.319-97_319-90del	NP_001136076.1:n.319-97_319-90del
NM_001363695.2:c.628-97_628-90del	NP_001350624.1:n.628-97_628-90del