Canonical Allele Identifier: CA1164243560

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074135_40074136delinsGA , CM000663.2:g.40074135_40074136delinsGA	GRCh38
NC_000001.10:g.40539807_40539808delinsGA , CM000663.1:g.40539807_40539808delinsGA	GRCh37
NC_000001.9:g.40312394_40312395delinsGA	NCBI36
NG_009192.1:g.28335_28336delinsTC , LRG_690:g.28335_28336delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.843_844delinsTC	ENSP00000394863.4:p.Phe281=
ENST00000439754.6:c.774_775delinsTC	ENSP00000403207.2:p.Phe258=
ENST00000449045.7:c.537_538delinsTC	ENSP00000392293.2:p.Phe179=
ENST00000527311.7:c.615_616delinsTC	ENSP00000436695.3:p.Phe205=
ENST00000530076.6:c.189_190delinsTC	ENSP00000434007.1:p.Phe63=
ENST00000530704.6:c.*469_*470delinsTC	ENSP00000431655.1:n.*469_*470delinsTC
ENST00000641083.1:c.936_937delinsTC
ENST00000641236.1:n.1083_1084delinsTC
ENST00000641319.1:c.*56_*57delinsTC	ENSP00000493128.1:n.*56_*57delinsTC
ENST00000641381.1:c.268_269delinsTC
ENST00000641471.1:c.933_934delinsTC	ENSP00000493146.1:p.Phe311=
ENST00000641691.1:c.*698_*699delinsTC	ENSP00000492910.1:n.*698_*699delinsTC
ENST00000641924.1:c.*275_*276delinsTC	ENSP00000493063.1:n.*275_*276delinsTC
ENST00000642050.2:c.846_847delinsTC MANE Select	ENSP00000493153.1:p.Phe282=
ENST00000372775.2:n.243_244delinsTC
ENST00000433473.7:c.846_847delinsTC	ENSP00000394863.3:p.Phe282=
ENST00000439754.5:c.459_460delinsTC	ENSP00000403207.1:p.Phe153=
ENST00000449045.6:c.537_538delinsTC	ENSP00000392293.2:p.Phe179=
ENST00000529905.5:c.846_847delinsTC	ENSP00000432053.1:p.Phe282=
ENST00000530076.5:c.189_190delinsTC	ENSP00000434007.1:p.Phe63=
ENST00000530704.5:c.*469_*470delinsTC	ENSP00000431655.1:n.*469_*470delinsTC
NM_000310.3:c.846_847delinsTC , LRG_690t1:c.846_847delinsTC	NP_000301.1:p.Phe282=
NM_001142604.1:c.537_538delinsTC	NP_001136076.1:p.Phe179=
XM_005271008.1:c.774_775delinsTC	XP_005271065.1:p.Phe258=
NM_001363695.1:c.774_775delinsTC	NP_001350624.1:p.Phe258=
NM_000310.4:c.846_847delinsTC MANE Select	NP_000301.1:p.Phe282=
NM_001142604.2:c.537_538delinsTC	NP_001136076.1:p.Phe179=
NM_001363695.2:c.774_775delinsTC	NP_001350624.1:p.Phe258=