Canonical Allele Identifier: CA20999501

Gene: PPT1

Linked Data

• dbSNP Id: rs142249638
• gnomAD v2: 1-40540046-TTCTC-T
• gnomAD v3: 1-40074374-TTCTC-T
• gnomAD v4: 1-40074374-TTCTC-T
• MyVariant Identifiers: chr1:g.40540047_40540050del (hg19) ; chr1:g.40074375_40074378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074376_40074379del , CM000663.2:g.40074376_40074379del	GRCh38
NC_000001.10:g.40540048_40540051del , CM000663.1:g.40540048_40540051del	GRCh37
NC_000001.9:g.40312635_40312638del	NCBI36
NG_009192.1:g.28093_28096del , LRG_690:g.28093_28096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-195_796-192del	ENSP00000394863.4:n.796-195_796-192del
ENST00000439754.6:c.727-195_727-192del	ENSP00000403207.2:n.727-195_727-192del
ENST00000449045.7:c.490-195_490-192del	ENSP00000392293.2:n.490-195_490-192del
ENST00000527311.7:c.568-195_568-192del	ENSP00000436695.3:n.568-195_568-192del
ENST00000530076.6:c.142-195_142-192del	ENSP00000434007.1:n.142-195_142-192del
ENST00000530704.6:c.*422-195_*422-192del	ENSP00000431655.1:n.*422-195_*422-192del
ENST00000641083.1:c.889-195_889-192del
ENST00000641236.1:n.1036-195_1036-192del
ENST00000641319.1:c.*9-195_*9-192del	ENSP00000493128.1:n.*9-195_*9-192del
ENST00000641381.1:c.221-195_221-192del
ENST00000641471.1:c.886-195_886-192del	ENSP00000493146.1:n.886-195_886-192del
ENST00000641691.1:c.*651-195_*651-192del	ENSP00000492910.1:n.*651-195_*651-192del
ENST00000641924.1:c.*228-195_*228-192del	ENSP00000493063.1:n.*228-195_*228-192del
ENST00000642050.2:c.799-195_799-192del MANE Select	ENSP00000493153.1:n.799-195_799-192del
ENST00000372775.2:n.196-195_196-192del
ENST00000433473.7:c.799-195_799-192del	ENSP00000394863.3:n.799-195_799-192del
ENST00000439754.5:c.412-195_412-192del	ENSP00000403207.1:n.412-195_412-192del
ENST00000449045.6:c.490-195_490-192del	ENSP00000392293.2:n.490-195_490-192del
ENST00000527311.6:c.574-195_574-192del	ENSP00000436695.2:n.574-195_574-192del
ENST00000529905.5:c.799-195_799-192del	ENSP00000432053.1:n.799-195_799-192del
ENST00000530076.5:c.142-195_142-192del	ENSP00000434007.1:n.142-195_142-192del
ENST00000530704.5:c.*422-195_*422-192del	ENSP00000431655.1:n.*422-195_*422-192del
NM_000310.3:c.799-195_799-192del , LRG_690t1:c.799-195_799-192del	NP_000301.1:n.799-195_799-192del
NM_001142604.1:c.490-195_490-192del	NP_001136076.1:n.490-195_490-192del
XM_005271008.1:c.727-195_727-192del	XP_005271065.1:n.727-195_727-192del
NM_001363695.1:c.727-195_727-192del	NP_001350624.1:n.727-195_727-192del
NM_000310.4:c.799-195_799-192del MANE Select	NP_000301.1:n.799-195_799-192del
NM_001142604.2:c.490-195_490-192del	NP_001136076.1:n.490-195_490-192del
NM_001363695.2:c.727-195_727-192del	NP_001350624.1:n.727-195_727-192del