Canonical Allele Identifier: CA1000854177

Gene: PPT1

Linked Data

• dbSNP Id: rs1648477096
• gnomAD v3: 1-40074385-CCTTTCTTTT-C
• gnomAD v4: 1-40074385-CCTTTCTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074393_40074401del , CM000663.2:g.40074393_40074401del	GRCh38
NC_000001.10:g.40540065_40540073del , CM000663.1:g.40540065_40540073del	GRCh37
NC_000001.9:g.40312652_40312660del	NCBI36
NG_009192.1:g.28077_28085del , LRG_690:g.28077_28085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-211_796-203del	ENSP00000394863.4:n.796-211_796-203del
ENST00000439754.6:c.727-211_727-203del	ENSP00000403207.2:n.727-211_727-203del
ENST00000449045.7:c.490-211_490-203del	ENSP00000392293.2:n.490-211_490-203del
ENST00000527311.7:c.568-211_568-203del	ENSP00000436695.3:n.568-211_568-203del
ENST00000530076.6:c.142-211_142-203del	ENSP00000434007.1:n.142-211_142-203del
ENST00000530704.6:c.*422-211_*422-203del	ENSP00000431655.1:n.*422-211_*422-203del
ENST00000641083.1:c.889-211_889-203del
ENST00000641236.1:n.1036-211_1036-203del
ENST00000641319.1:c.*9-211_*9-203del	ENSP00000493128.1:n.*9-211_*9-203del
ENST00000641381.1:c.221-211_221-203del
ENST00000641471.1:c.886-211_886-203del	ENSP00000493146.1:n.886-211_886-203del
ENST00000641691.1:c.*651-211_*651-203del	ENSP00000492910.1:n.*651-211_*651-203del
ENST00000641924.1:c.*228-211_*228-203del	ENSP00000493063.1:n.*228-211_*228-203del
ENST00000642050.2:c.799-211_799-203del MANE Select	ENSP00000493153.1:n.799-211_799-203del
ENST00000372775.2:n.196-211_196-203del
ENST00000433473.7:c.799-211_799-203del	ENSP00000394863.3:n.799-211_799-203del
ENST00000439754.5:c.412-211_412-203del	ENSP00000403207.1:n.412-211_412-203del
ENST00000449045.6:c.490-211_490-203del	ENSP00000392293.2:n.490-211_490-203del
ENST00000527311.6:c.574-211_574-203del	ENSP00000436695.2:n.574-211_574-203del
ENST00000529905.5:c.799-211_799-203del	ENSP00000432053.1:n.799-211_799-203del
ENST00000530076.5:c.142-211_142-203del	ENSP00000434007.1:n.142-211_142-203del
ENST00000530704.5:c.*422-211_*422-203del	ENSP00000431655.1:n.*422-211_*422-203del
NM_000310.3:c.799-211_799-203del , LRG_690t1:c.799-211_799-203del	NP_000301.1:n.799-211_799-203del
NM_001142604.1:c.490-211_490-203del	NP_001136076.1:n.490-211_490-203del
XM_005271008.1:c.727-211_727-203del	XP_005271065.1:n.727-211_727-203del
NM_001363695.1:c.727-211_727-203del	NP_001350624.1:n.727-211_727-203del
NM_000310.4:c.799-211_799-203del MANE Select	NP_000301.1:n.799-211_799-203del
NM_001142604.2:c.490-211_490-203del	NP_001136076.1:n.490-211_490-203del
NM_001363695.2:c.727-211_727-203del	NP_001350624.1:n.727-211_727-203del