Canonical Allele Identifier: CA1164243703

Gene: PPT1

Linked Data

• dbSNP Id: rs1648472426
• gnomAD v3: 1-40074370-TTC-T
• gnomAD v4: 1-40074370-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074372_40074373del , CM000663.2:g.40074372_40074373del	GRCh38
NC_000001.10:g.40540044_40540045del , CM000663.1:g.40540044_40540045del	GRCh37
NC_000001.9:g.40312631_40312632del	NCBI36
NG_009192.1:g.28099_28100del , LRG_690:g.28099_28100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-189_796-188del	ENSP00000394863.4:n.796-189_796-188del
ENST00000439754.6:c.727-189_727-188del	ENSP00000403207.2:n.727-189_727-188del
ENST00000449045.7:c.490-189_490-188del	ENSP00000392293.2:n.490-189_490-188del
ENST00000527311.7:c.568-189_568-188del	ENSP00000436695.3:n.568-189_568-188del
ENST00000530076.6:c.142-189_142-188del	ENSP00000434007.1:n.142-189_142-188del
ENST00000530704.6:c.*422-189_*422-188del	ENSP00000431655.1:n.*422-189_*422-188del
ENST00000641083.1:c.889-189_889-188del
ENST00000641236.1:n.1036-189_1036-188del
ENST00000641319.1:c.*9-189_*9-188del	ENSP00000493128.1:n.*9-189_*9-188del
ENST00000641381.1:c.221-189_221-188del
ENST00000641471.1:c.886-189_886-188del	ENSP00000493146.1:n.886-189_886-188del
ENST00000641691.1:c.*651-189_*651-188del	ENSP00000492910.1:n.*651-189_*651-188del
ENST00000641924.1:c.*228-189_*228-188del	ENSP00000493063.1:n.*228-189_*228-188del
ENST00000642050.2:c.799-189_799-188del MANE Select	ENSP00000493153.1:n.799-189_799-188del
ENST00000372775.2:n.196-189_196-188del
ENST00000433473.7:c.799-189_799-188del	ENSP00000394863.3:n.799-189_799-188del
ENST00000439754.5:c.412-189_412-188del	ENSP00000403207.1:n.412-189_412-188del
ENST00000449045.6:c.490-189_490-188del	ENSP00000392293.2:n.490-189_490-188del
ENST00000527311.6:c.574-189_574-188del	ENSP00000436695.2:n.574-189_574-188del
ENST00000529905.5:c.799-189_799-188del	ENSP00000432053.1:n.799-189_799-188del
ENST00000530076.5:c.142-189_142-188del	ENSP00000434007.1:n.142-189_142-188del
ENST00000530704.5:c.*422-189_*422-188del	ENSP00000431655.1:n.*422-189_*422-188del
NM_000310.3:c.799-189_799-188del , LRG_690t1:c.799-189_799-188del	NP_000301.1:n.799-189_799-188del
NM_001142604.1:c.490-189_490-188del	NP_001136076.1:n.490-189_490-188del
XM_005271008.1:c.727-189_727-188del	XP_005271065.1:n.727-189_727-188del
NM_001363695.1:c.727-189_727-188del	NP_001350624.1:n.727-189_727-188del
NM_000310.4:c.799-189_799-188del MANE Select	NP_000301.1:n.799-189_799-188del
NM_001142604.2:c.490-189_490-188del	NP_001136076.1:n.490-189_490-188del
NM_001363695.2:c.727-189_727-188del	NP_001350624.1:n.727-189_727-188del