Canonical Allele Identifier: CA2739272473

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2810875
• ClinVar RCV Id: RCV003620703

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080418del , CM000663.2:g.40080418del	GRCh38
NC_000001.10:g.40546090del , CM000663.1:g.40546090del	GRCh37
NC_000001.9:g.40318677del	NCBI36
NG_009192.1:g.22054del , LRG_690:g.22054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.604del	ENSP00000394863.4:p.Ala202GlnfsTer3
ENST00000439754.6:c.607del	ENSP00000403207.2:p.Ala203GlnfsTer3
ENST00000449045.7:c.298del	ENSP00000392293.2:p.Ala100GlnfsTer3
ENST00000527311.7:c.376del	ENSP00000436695.3:p.Ala126GlnfsTer3
ENST00000530076.6:c.-51del	ENSP00000434007.1:n.-51del
ENST00000530704.6:c.*230del	ENSP00000431655.1:n.*230del
ENST00000641083.1:c.585del
ENST00000641236.1:n.844del
ENST00000641319.1:c.607del	ENSP00000493128.1:p.Ala203GlnfsTer3
ENST00000641381.1:c.149-3504del
ENST00000641471.1:c.694del	ENSP00000493146.1:p.Ala232GlnfsTer3
ENST00000641691.1:c.*459del	ENSP00000492910.1:n.*459del
ENST00000641924.1:c.*36del	ENSP00000493063.1:n.*36del
ENST00000642050.2:c.607del MANE Select	ENSP00000493153.1:p.Ala203GlnfsTer3
ENST00000372779.8:c.694del	ENSP00000361865.4:p.Ala232GlnfsTer3
ENST00000433473.7:c.607del	ENSP00000394863.3:p.Ala203GlnfsTer3
ENST00000439754.5:c.292del	ENSP00000403207.1:p.Ala98GlnfsTer3
ENST00000449045.6:c.298del	ENSP00000392293.2:p.Ala100GlnfsTer3
ENST00000527311.6:c.382del	ENSP00000436695.2:p.Ala128GlnfsTer3
ENST00000529905.5:c.607del	ENSP00000432053.1:p.Ala203GlnfsTer3
ENST00000530076.5:c.-51del	ENSP00000434007.1:n.-51del
ENST00000530704.5:c.*230del	ENSP00000431655.1:n.*230del
NM_000310.3:c.607del , LRG_690t1:c.607del	NP_000301.1:p.Ala203GlnfsTer3
NM_001142604.1:c.298del	NP_001136076.1:p.Ala100GlnfsTer3
XM_005271008.1:c.607del	XP_005271065.1:p.Ala203GlnfsTer3
NM_001363695.1:c.607del	NP_001350624.1:p.Ala203GlnfsTer3
NM_000310.4:c.607del MANE Select	NP_000301.1:p.Ala203GlnfsTer3
NM_001142604.2:c.298del	NP_001136076.1:p.Ala100GlnfsTer3
NM_001363695.2:c.607del	NP_001350624.1:p.Ala203GlnfsTer3