Canonical Allele Identifier: CA1164252243
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092119_40092136delinsACACACTGTTGTTACTTG , CM000663.2:g.40092119_40092136delinsACACACTGTTGTTACTTG GRCh38
NC_000001.10:g.40557791_40557808delinsACACACTGTTGTTACTTG , CM000663.1:g.40557791_40557808delinsACACACTGTTGTTACTTG GRCh37
NC_000001.9:g.40330378_40330395delinsACACACTGTTGTTACTTG NCBI36
NG_009192.1:g.10335_10352delinsCAAGTAACAACAGTGTGT , LRG_690:g.10335_10352delinsCAAGTAACAACAGTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*107_*124delinsCAAGTAACAACAGTGTGT ENSP00000361865.5:n.*107_*124delinsCAAGTAACAACAGTGTGT
ENST00000433473.8:c.268_285delinsCAAGTAACAACAGTGTGT ENSP00000394863.4:p.Gln90=
ENST00000439754.6:c.271_288delinsCAAGTAACAACAGTGTGT ENSP00000403207.2:p.Gln91=
ENST00000449045.7:c.125-2624_125-2607delinsCAAGTAACAACAGTGTGT ENSP00000392293.2:n.125-2624_125-2607delinsCAAGTAACAACAGTGTGT...
ENST00000526547.2:c.551_568delinsCAAGTAACAACAGTGTGT
ENST00000527311.7:c.234+262_234+279delinsCAAGTAACAACAGTGTGT ENSP00000436695.3:n.234+262_234+279delinsCAAGTAACAACAGTGTGT
ENST00000530704.6:c.271_288delinsCAAGTAACAACAGTGTGT ENSP00000431655.1:p.Gln91=
ENST00000641083.1:c.249_266delinsCAAGTAACAACAGTGTGT
ENST00000641236.1:n.508_525delinsCAAGTAACAACAGTGTGT
ENST00000641319.1:c.271_288delinsCAAGTAACAACAGTGTGT ENSP00000493128.1:p.Gln91=
ENST00000641471.1:c.358_375delinsCAAGTAACAACAGTGTGT ENSP00000493146.1:p.Gln120=
ENST00000641548.1:c.*123_*140delinsCAAGTAACAACAGTGTGT ENSP00000492984.1:n.*123_*140delinsCAAGTAACAACAGTGTGT
ENST00000641691.1:c.*123_*140delinsCAAGTAACAACAGTGTGT ENSP00000492910.1:n.*123_*140delinsCAAGTAACAACAGTGTGT
ENST00000641924.1:c.124+4979_124+4996delinsCAAGTAACAACAGTGTGT ENSP00000493063.1:n.124+4979_124+4996delinsCAAGTAACAACAGTGTGT...
ENST00000642050.2:c.271_288delinsCAAGTAACAACAGTGTGT MANE Select ENSP00000493153.1:p.Gln91=
ENST00000372779.8:c.358_375delinsCAAGTAACAACAGTGTGT ENSP00000361865.4:p.Gln120=
ENST00000433473.7:c.271_288delinsCAAGTAACAACAGTGTGT ENSP00000394863.3:p.Gln91=
ENST00000449045.6:c.125-2624_125-2607delinsCAAGTAACAACAGTGTGT ENSP00000392293.2:n.125-2624_125-2607delinsCAAGTAACAACAGTGTGT...
ENST00000526547.1:c.121_138delinsCAAGTAACAACAGTGTGT ENSP00000436481.1:p.Gln41=
ENST00000527311.6:c.125-79_125-62delinsCAAGTAACAACAGTGTGT ENSP00000436695.2:n.125-79_125-62delinsCAAGTAACAACAGTGTGT
ENST00000529905.5:c.271_288delinsCAAGTAACAACAGTGTGT ENSP00000432053.1:p.Gln91=
ENST00000530704.5:c.271_288delinsCAAGTAACAACAGTGTGT ENSP00000431655.1:p.Gln91=
NM_000310.3:c.271_288delinsCAAGTAACAACAGTGTGT , LRG_690t1:c.271_288delinsCAAGTAACAACAGTGTGT NP_000301.1:p.Gln91=
NM_001142604.1:c.125-2624_125-2607delinsCAAGTAACAACAGTGTGT NP_001136076.1:n.125-2624_125-2607delinsCAAGTAACAACAGTGTGT
XM_005271008.1:c.271_288delinsCAAGTAACAACAGTGTGT XP_005271065.1:p.Gln91=
NM_001363695.1:c.271_288delinsCAAGTAACAACAGTGTGT NP_001350624.1:p.Gln91=
NM_000310.4:c.271_288delinsCAAGTAACAACAGTGTGT MANE Select NP_000301.1:p.Gln91=
NM_001142604.2:c.125-2624_125-2607delinsCAAGTAACAACAGTGTGT NP_001136076.1:n.125-2624_125-2607delinsCAAGTAACAACAGTGTGT
NM_001363695.2:c.271_288delinsCAAGTAACAACAGTGTGT NP_001350624.1:p.Gln91=