Canonical Allele Identifier: CA1144228738

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092120_40092136delinsCACACTGTTGTTACTTG , CM000663.2:g.40092120_40092136delinsCACACTGTTGTTACTTG	GRCh38
NC_000001.10:g.40557792_40557808delinsCACACTGTTGTTACTTG , CM000663.1:g.40557792_40557808delinsCACACTGTTGTTACTTG	GRCh37
NC_000001.9:g.40330379_40330395delinsCACACTGTTGTTACTTG	NCBI36
NG_009192.1:g.10335_10351delinsCAAGTAACAACAGTGTG , LRG_690:g.10335_10351delinsCAAGTAACAACAGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*107_*123delinsCAAGTAACAACAGTGTG	ENSP00000361865.5:n.*107_*123delinsCAAGTAACAACAGTGTG
ENST00000433473.8:c.268_284delinsCAAGTAACAACAGTGTG	ENSP00000394863.4:p.Gln90=
ENST00000439754.6:c.271_287delinsCAAGTAACAACAGTGTG	ENSP00000403207.2:p.Gln91=
ENST00000449045.7:c.125-2624_125-2608delinsCAAGTAACAACAGTGTG	ENSP00000392293.2:n.125-2624_125-2608delinsCAAGTAACAACAGTGTG
ENST00000526547.2:c.551_567delinsCAAGTAACAACAGTGTG
ENST00000527311.7:c.234+262_234+278delinsCAAGTAACAACAGTGTG	ENSP00000436695.3:n.234+262_234+278delinsCAAGTAACAACAGTGTG
ENST00000530704.6:c.271_287delinsCAAGTAACAACAGTGTG	ENSP00000431655.1:p.Gln91=
ENST00000641083.1:c.249_265delinsCAAGTAACAACAGTGTG
ENST00000641236.1:n.508_524delinsCAAGTAACAACAGTGTG
ENST00000641319.1:c.271_287delinsCAAGTAACAACAGTGTG	ENSP00000493128.1:p.Gln91=
ENST00000641471.1:c.358_374delinsCAAGTAACAACAGTGTG	ENSP00000493146.1:p.Gln120=
ENST00000641548.1:c.*123_*139delinsCAAGTAACAACAGTGTG	ENSP00000492984.1:n.*123_*139delinsCAAGTAACAACAGTGTG
ENST00000641691.1:c.*123_*139delinsCAAGTAACAACAGTGTG	ENSP00000492910.1:n.*123_*139delinsCAAGTAACAACAGTGTG
ENST00000641924.1:c.124+4979_124+4995delinsCAAGTAACAACAGTGTG	ENSP00000493063.1:n.124+4979_124+4995delinsCAAGTAACAACAGTGTG
ENST00000642050.2:c.271_287delinsCAAGTAACAACAGTGTG MANE Select	ENSP00000493153.1:p.Gln91=
ENST00000372779.8:c.358_374delinsCAAGTAACAACAGTGTG	ENSP00000361865.4:p.Gln120=
ENST00000433473.7:c.271_287delinsCAAGTAACAACAGTGTG	ENSP00000394863.3:p.Gln91=
ENST00000449045.6:c.125-2624_125-2608delinsCAAGTAACAACAGTGTG	ENSP00000392293.2:n.125-2624_125-2608delinsCAAGTAACAACAGTGTG
ENST00000526547.1:c.121_137delinsCAAGTAACAACAGTGTG	ENSP00000436481.1:p.Gln41=
ENST00000527311.6:c.125-79_125-63delinsCAAGTAACAACAGTGTG	ENSP00000436695.2:n.125-79_125-63delinsCAAGTAACAACAGTGTG
ENST00000529905.5:c.271_287delinsCAAGTAACAACAGTGTG	ENSP00000432053.1:p.Gln91=
ENST00000530704.5:c.271_287delinsCAAGTAACAACAGTGTG	ENSP00000431655.1:p.Gln91=
NM_000310.3:c.271_287delinsCAAGTAACAACAGTGTG , LRG_690t1:c.271_287delinsCAAGTAACAACAGTGTG	NP_000301.1:p.Gln91=
NM_001142604.1:c.125-2624_125-2608delinsCAAGTAACAACAGTGTG	NP_001136076.1:n.125-2624_125-2608delinsCAAGTAACAACAGTGTG
XM_005271008.1:c.271_287delinsCAAGTAACAACAGTGTG	XP_005271065.1:p.Gln91=
NM_001363695.1:c.271_287delinsCAAGTAACAACAGTGTG	NP_001350624.1:p.Gln91=
NM_000310.4:c.271_287delinsCAAGTAACAACAGTGTG MANE Select	NP_000301.1:p.Gln91=
NM_001142604.2:c.125-2624_125-2608delinsCAAGTAACAACAGTGTG	NP_001136076.1:n.125-2624_125-2608delinsCAAGTAACAACAGTGTG
NM_001363695.2:c.271_287delinsCAAGTAACAACAGTGTG	NP_001350624.1:p.Gln91=