Canonical Allele Identifier: CA2610046157

Gene: PTEN KLLN

Linked Data

• gnomAD v4: 10-87863437-CCCTCCCCTCGCCCGGCGCGGTCCCGTCCGCCTCTCGCTCGCCTCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87863448_87863494del , CM000672.2:g.87863448_87863494del	GRCh38
NC_000010.10:g.89623205_89623251del , CM000672.1:g.89623205_89623251del	GRCh37
NC_000010.9:g.89613185_89613231del	NCBI36
NG_007466.2:g.5011_5057del , LRG_311:g.5011_5057del
NG_033079.1:g.4954_5000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706954.1:c.-17+806_-17+852del (PTEN)	ENSP00000516674.1:n.-17+806_-17+852del
ENST00000688308.1:c.-17+335_-17+381del (PTEN)	ENSP00000508752.1:n.-17+335_-17+381del
ENST00000693560.1:c.-502_-456del (PTEN)	ENSP00000509861.1:n.-502_-456del
ENST00000445946.5:c.-997_-951del (KLLN) MANE Select	ENSP00000392204.2:n.-997_-951del
ENST00000371953.7:c.-1022_-976del (PTEN)	ENSP00000361021.3:n.-1022_-976del
ENST00000610634.1:c.-1124_-1078del (PTEN)	ENSP00000477517.1:n.-1124_-1078del
NM_000314.5:c.-1021_-975del (PTEN)	NP_000305.3:n.-1021_-975del
NM_000314.6:c.-1021_-975del (PTEN)	NP_000305.3:n.-1021_-975del
NM_001304717.2:c.-502_-456del (PTEN)	NP_001291646.2:n.-502_-456del
NM_001304718.1:c.-1726_-1680del (PTEN)	NP_001291647.1:n.-1726_-1680del
NM_001126049.2:c.-997_-951del (KLLN) MANE Select	NP_001119521.1:n.-997_-951del