Canonical Allele Identifier: CA522417358

Gene: PPT1

Linked Data

• dbSNP Id: rs1474531948
• gnomAD v2: 1-40540059-TTTC-T
• gnomAD v3: 1-40074387-TTTC-T
• gnomAD v4: 1-40074387-TTTC-T
• MyVariant Identifiers: chr1:g.40540060_40540062del (hg19) ; chr1:g.40074388_40074390del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074390_40074392del , CM000663.2:g.40074390_40074392del	GRCh38
NC_000001.10:g.40540062_40540064del , CM000663.1:g.40540062_40540064del	GRCh37
NC_000001.9:g.40312649_40312651del	NCBI36
NG_009192.1:g.28081_28083del , LRG_690:g.28081_28083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-207_796-205del	ENSP00000394863.4:n.796-207_796-205del
ENST00000439754.6:c.727-207_727-205del	ENSP00000403207.2:n.727-207_727-205del
ENST00000449045.7:c.490-207_490-205del	ENSP00000392293.2:n.490-207_490-205del
ENST00000527311.7:c.568-207_568-205del	ENSP00000436695.3:n.568-207_568-205del
ENST00000530076.6:c.142-207_142-205del	ENSP00000434007.1:n.142-207_142-205del
ENST00000530704.6:c.*422-207_*422-205del	ENSP00000431655.1:n.*422-207_*422-205del
ENST00000641083.1:c.889-207_889-205del
ENST00000641236.1:n.1036-207_1036-205del
ENST00000641319.1:c.*9-207_*9-205del	ENSP00000493128.1:n.*9-207_*9-205del
ENST00000641381.1:c.221-207_221-205del
ENST00000641471.1:c.886-207_886-205del	ENSP00000493146.1:n.886-207_886-205del
ENST00000641691.1:c.*651-207_*651-205del	ENSP00000492910.1:n.*651-207_*651-205del
ENST00000641924.1:c.*228-207_*228-205del	ENSP00000493063.1:n.*228-207_*228-205del
ENST00000642050.2:c.799-207_799-205del MANE Select	ENSP00000493153.1:n.799-207_799-205del
ENST00000372775.2:n.196-207_196-205del
ENST00000433473.7:c.799-207_799-205del	ENSP00000394863.3:n.799-207_799-205del
ENST00000439754.5:c.412-207_412-205del	ENSP00000403207.1:n.412-207_412-205del
ENST00000449045.6:c.490-207_490-205del	ENSP00000392293.2:n.490-207_490-205del
ENST00000527311.6:c.574-207_574-205del	ENSP00000436695.2:n.574-207_574-205del
ENST00000529905.5:c.799-207_799-205del	ENSP00000432053.1:n.799-207_799-205del
ENST00000530076.5:c.142-207_142-205del	ENSP00000434007.1:n.142-207_142-205del
ENST00000530704.5:c.*422-207_*422-205del	ENSP00000431655.1:n.*422-207_*422-205del
NM_000310.3:c.799-207_799-205del , LRG_690t1:c.799-207_799-205del	NP_000301.1:n.799-207_799-205del
NM_001142604.1:c.490-207_490-205del	NP_001136076.1:n.490-207_490-205del
XM_005271008.1:c.727-207_727-205del	XP_005271065.1:n.727-207_727-205del
NM_001363695.1:c.727-207_727-205del	NP_001350624.1:n.727-207_727-205del
NM_000310.4:c.799-207_799-205del MANE Select	NP_000301.1:n.799-207_799-205del
NM_001142604.2:c.490-207_490-205del	NP_001136076.1:n.490-207_490-205del
NM_001363695.2:c.727-207_727-205del	NP_001350624.1:n.727-207_727-205del