Canonical Allele Identifier: CA2586966436

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092094-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092097del , CM000663.2:g.40092097del	GRCh38
NC_000001.10:g.40557769del , CM000663.1:g.40557769del	GRCh37
NC_000001.9:g.40330356del	NCBI36
NG_009192.1:g.10376del , LRG_690:g.10376del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*148del	ENSP00000361865.5:n.*148del
ENST00000433473.8:c.309del	ENSP00000394863.4:p.Lys103AsnfsTer18
ENST00000439754.6:c.312del	ENSP00000403207.2:p.Lys104AsnfsTer18
ENST00000449045.7:c.125-2583del	ENSP00000392293.2:n.125-2583del
ENST00000526547.2:c.592del
ENST00000527311.7:c.234+303del	ENSP00000436695.3:n.234+303del
ENST00000530704.6:c.312del	ENSP00000431655.1:p.Lys104AsnfsTer18
ENST00000641083.1:c.290del
ENST00000641236.1:n.549del
ENST00000641319.1:c.312del	ENSP00000493128.1:p.Lys104AsnfsTer18
ENST00000641471.1:c.399del	ENSP00000493146.1:p.Lys133AsnfsTer18
ENST00000641548.1:c.*164del	ENSP00000492984.1:n.*164del
ENST00000641691.1:c.*164del	ENSP00000492910.1:n.*164del
ENST00000641924.1:c.124+5020del	ENSP00000493063.1:n.124+5020del
ENST00000642050.2:c.312del MANE Select	ENSP00000493153.1:p.Lys104AsnfsTer18
ENST00000372779.8:c.399del	ENSP00000361865.4:p.Lys133AsnfsTer18
ENST00000433473.7:c.312del	ENSP00000394863.3:p.Lys104AsnfsTer18
ENST00000449045.6:c.125-2583del	ENSP00000392293.2:n.125-2583del
ENST00000526547.1:c.162del	ENSP00000436481.1:p.Lys54AsnfsTer18
ENST00000527311.6:c.125-38del	ENSP00000436695.2:n.125-38del
ENST00000529905.5:c.312del	ENSP00000432053.1:p.Lys104AsnfsTer18
ENST00000530704.5:c.312del	ENSP00000431655.1:p.Lys104AsnfsTer18
NM_000310.3:c.312del , LRG_690t1:c.312del	NP_000301.1:p.Lys104AsnfsTer18
NM_001142604.1:c.125-2583del	NP_001136076.1:n.125-2583del
XM_005271008.1:c.312del	XP_005271065.1:p.Lys104AsnfsTer18
NM_001363695.1:c.312del	NP_001350624.1:p.Lys104AsnfsTer18
NM_000310.4:c.312del MANE Select	NP_000301.1:p.Lys104AsnfsTer18
NM_001142604.2:c.125-2583del	NP_001136076.1:n.125-2583del
NM_001363695.2:c.312del	NP_001350624.1:p.Lys104AsnfsTer18