Canonical Allele Identifier: CA1164235738

Gene: PPT1

Linked Data

• dbSNP Id: rs1648870046

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080442_40080445del , CM000663.2:g.40080442_40080445del	GRCh38
NC_000001.10:g.40546114_40546117del , CM000663.1:g.40546114_40546117del	GRCh37
NC_000001.9:g.40318701_40318704del	NCBI36
NG_009192.1:g.22027_22030del , LRG_690:g.22027_22030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.577_580del	ENSP00000394863.4:p.Val193IlefsTer11
ENST00000439754.6:c.580_583del	ENSP00000403207.2:p.Val194IlefsTer11
ENST00000449045.7:c.271_274del	ENSP00000392293.2:p.Val91IlefsTer11
ENST00000527311.7:c.349_352del	ENSP00000436695.3:p.Val117IlefsTer11
ENST00000530076.6:c.-78_-75del	ENSP00000434007.1:n.-78_-75del
ENST00000530704.6:c.*203_*206del	ENSP00000431655.1:n.*203_*206del
ENST00000641083.1:c.558_561del
ENST00000641236.1:n.817_820del
ENST00000641319.1:c.580_583del	ENSP00000493128.1:p.Val194IlefsTer11
ENST00000641381.1:c.149-3531_149-3528del
ENST00000641471.1:c.667_670del	ENSP00000493146.1:p.Val223IlefsTer11
ENST00000641691.1:c.*432_*435del	ENSP00000492910.1:n.*432_*435del
ENST00000641924.1:c.*9_*12del	ENSP00000493063.1:n.*9_*12del
ENST00000642050.2:c.580_583del MANE Select	ENSP00000493153.1:p.Val194IlefsTer11
ENST00000372779.8:c.667_670del	ENSP00000361865.4:p.Val223IlefsTer11
ENST00000433473.7:c.580_583del	ENSP00000394863.3:p.Val194IlefsTer11
ENST00000439754.5:c.265_268del	ENSP00000403207.1:p.Val89IlefsTer11
ENST00000449045.6:c.271_274del	ENSP00000392293.2:p.Val91IlefsTer11
ENST00000527311.6:c.355_358del	ENSP00000436695.2:p.Val119IlefsTer11
ENST00000529905.5:c.580_583del	ENSP00000432053.1:p.Val194IlefsTer11
ENST00000530076.5:c.-78_-75del	ENSP00000434007.1:n.-78_-75del
ENST00000530704.5:c.*203_*206del	ENSP00000431655.1:n.*203_*206del
NM_000310.3:c.580_583del , LRG_690t1:c.580_583del	NP_000301.1:p.Val194IlefsTer11
NM_001142604.1:c.271_274del	NP_001136076.1:p.Val91IlefsTer11
XM_005271008.1:c.580_583del	XP_005271065.1:p.Val194IlefsTer11
NM_001363695.1:c.580_583del	NP_001350624.1:p.Val194IlefsTer11
NM_000310.4:c.580_583del MANE Select	NP_000301.1:p.Val194IlefsTer11
NM_001142604.2:c.271_274del	NP_001136076.1:p.Val91IlefsTer11
NM_001363695.2:c.580_583del	NP_001350624.1:p.Val194IlefsTer11