Canonical Allele Identifier: CA522417345

Gene: PPT1

Linked Data

• dbSNP Id: rs1210467262
• gnomAD v2: 1-40540013-TTC-T
• gnomAD v3: 1-40074341-TTC-T
• gnomAD v4: 1-40074341-TTC-T
• MyVariant Identifiers: chr1:g.40540014_40540015del (hg19) ; chr1:g.40074342_40074343del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074343_40074344del , CM000663.2:g.40074343_40074344del	GRCh38
NC_000001.10:g.40540015_40540016del , CM000663.1:g.40540015_40540016del	GRCh37
NC_000001.9:g.40312602_40312603del	NCBI36
NG_009192.1:g.28128_28129del , LRG_690:g.28128_28129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-160_796-159del	ENSP00000394863.4:n.796-160_796-159del
ENST00000439754.6:c.727-160_727-159del	ENSP00000403207.2:n.727-160_727-159del
ENST00000449045.7:c.490-160_490-159del	ENSP00000392293.2:n.490-160_490-159del
ENST00000527311.7:c.568-160_568-159del	ENSP00000436695.3:n.568-160_568-159del
ENST00000530076.6:c.142-160_142-159del	ENSP00000434007.1:n.142-160_142-159del
ENST00000530704.6:c.*422-160_*422-159del	ENSP00000431655.1:n.*422-160_*422-159del
ENST00000641083.1:c.889-160_889-159del
ENST00000641236.1:n.1036-160_1036-159del
ENST00000641319.1:c.*9-160_*9-159del	ENSP00000493128.1:n.*9-160_*9-159del
ENST00000641381.1:c.221-160_221-159del
ENST00000641471.1:c.886-160_886-159del	ENSP00000493146.1:n.886-160_886-159del
ENST00000641691.1:c.*651-160_*651-159del	ENSP00000492910.1:n.*651-160_*651-159del
ENST00000641924.1:c.*228-160_*228-159del	ENSP00000493063.1:n.*228-160_*228-159del
ENST00000642050.2:c.799-160_799-159del MANE Select	ENSP00000493153.1:n.799-160_799-159del
ENST00000372775.2:n.196-160_196-159del
ENST00000433473.7:c.799-160_799-159del	ENSP00000394863.3:n.799-160_799-159del
ENST00000439754.5:c.412-160_412-159del	ENSP00000403207.1:n.412-160_412-159del
ENST00000449045.6:c.490-160_490-159del	ENSP00000392293.2:n.490-160_490-159del
ENST00000527311.6:c.574-160_574-159del	ENSP00000436695.2:n.574-160_574-159del
ENST00000529905.5:c.799-160_799-159del	ENSP00000432053.1:n.799-160_799-159del
ENST00000530076.5:c.142-160_142-159del	ENSP00000434007.1:n.142-160_142-159del
ENST00000530704.5:c.*422-160_*422-159del	ENSP00000431655.1:n.*422-160_*422-159del
NM_000310.3:c.799-160_799-159del , LRG_690t1:c.799-160_799-159del	NP_000301.1:n.799-160_799-159del
NM_001142604.1:c.490-160_490-159del	NP_001136076.1:n.490-160_490-159del
XM_005271008.1:c.727-160_727-159del	XP_005271065.1:n.727-160_727-159del
NM_001363695.1:c.727-160_727-159del	NP_001350624.1:n.727-160_727-159del
NM_000310.4:c.799-160_799-159del MANE Select	NP_000301.1:n.799-160_799-159del
NM_001142604.2:c.490-160_490-159del	NP_001136076.1:n.490-160_490-159del
NM_001363695.2:c.727-160_727-159del	NP_001350624.1:n.727-160_727-159del