Allele Registry

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Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863638G= , CM000672.2:g.87863638G=	GRCh38
NC_000010.10:g.89623395G= , CM000672.1:g.89623395G=	GRCh37
NC_000010.9:g.89613375G=	NCBI36
NG_007466.2:g.5201G= , LRG_311:g.5201G=
NG_033079.1:g.4800C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.-832G= (PTEN)	ENSP00000514759.2:n.-832G=
ENST00000710265.1:c.-832G= (PTEN)	ENSP00000518161.1:n.-832G=
ENST00000706954.1:c.-16-816G= (PTEN)	ENSP00000516674.1:n.-16-816G=
ENST00000706955.1:c.-832G= (PTEN)	ENSP00000516675.1:n.-832G=
ENST00000688158.1:c.-832G= (PTEN)	ENSP00000509254.1:n.-832G=
ENST00000688308.1:c.-17+525G= (PTEN)	ENSP00000508752.1:n.-17+525G=
ENST00000692337.1:c.80G= (MLDHR)	ENSP00000509326.1:p.Arg27=
ENST00000693560.1:c.-312G= (PTEN)	ENSP00000509861.1:n.-312G=
ENST00000371953.8:c.-832G= (PTEN) MANE Select	ENSP00000361021.3:n.-832G=
ENST00000371953.7:c.-832G= (PTEN)	ENSP00000361021.3:n.-832G=
ENST00000610634.1:c.-934G= (PTEN)	ENSP00000477517.1:n.-934G=
NM_000314.5:c.-831G= (PTEN)	NP_000305.3:n.-831G=
NM_000314.6:c.-831G= (PTEN)	NP_000305.3:n.-831G=
NM_001304717.2:c.-312G= (PTEN)	NP_001291646.2:n.-312G=
NM_001304718.1:c.-1536G= (PTEN)	NP_001291647.1:n.-1536G=
NM_000314.7:c.-831G= (PTEN)	NP_000305.3:n.-831G=
NM_001304717.5:c.-312G= (PTEN)	NP_001291646.4:n.-312G=
NM_001304718.2:c.-1536G= (PTEN)	NP_001291647.1:n.-1536G=
NM_000314.8:c.-832G= (PTEN) MANE Select	NP_000305.3:n.-832G=