Canonical Allele Identifier: CA1926143119
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863576_87863577delinsAT , CM000672.2:g.87863576_87863577delinsAT GRCh38
NC_000010.10:g.89623333_89623334delinsAT , CM000672.1:g.89623333_89623334delinsAT GRCh37
NC_000010.9:g.89613313_89613314delinsAT NCBI36
NG_007466.2:g.5139_5140delinsAT , LRG_311:g.5139_5140delinsAT
NG_033079.1:g.4861_4862delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-878_-16-877delinsAT (PTEN) ENSP00000516674.1:n.-16-878_-16-877delinsAT
ENST00000688308.1:c.-17+463_-17+464delinsAT (PTEN) ENSP00000508752.1:n.-17+463_-17+464delinsAT
ENST00000692337.1:c.18_19delinsAT (MLDHR) ENSP00000509326.1:p.Leu6=
ENST00000693560.1:c.-374_-373delinsAT (PTEN) ENSP00000509861.1:n.-374_-373delinsAT
ENST00000371953.7:c.-894_-893delinsAT (PTEN) ENSP00000361021.3:n.-894_-893delinsAT
ENST00000610634.1:c.-996_-995delinsAT (PTEN) ENSP00000477517.1:n.-996_-995delinsAT
NM_000314.5:c.-893_-892delinsAT (PTEN) NP_000305.3:n.-893_-892delinsAT
NM_000314.6:c.-893_-892delinsAT (PTEN) NP_000305.3:n.-893_-892delinsAT
NM_001304717.2:c.-374_-373delinsAT (PTEN) NP_001291646.2:n.-374_-373delinsAT
NM_001304718.1:c.-1598_-1597delinsAT (PTEN) NP_001291647.1:n.-1598_-1597delinsAT
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