Canonical Allele Identifier: CA2695235898

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589906_129589914delinsAAG , CM000685.2:g.129589906_129589914delinsAAG	GRCh38
NC_000023.10:g.128723883_128723891delinsAAG , CM000685.1:g.128723883_128723891delinsAAG	GRCh37
NC_000023.9:g.128551564_128551572delinsAAG	NCBI36
NG_008638.1:g.54632_54640delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000693473.1:c.2648_2656delinsAAG
ENST00000371113.9:c.2531_2539delinsAAG MANE Select	ENSP00000360154.4:p.Arg844_Leu847delinsGlnVal
ENST00000646010.1:c.2579_2587delinsAAG
ENST00000646914.1:c.1836_1844delinsAAG
ENST00000647245.1:c.2082_2090delinsAAG
ENST00000357121.5:c.2507_2515delinsAAG	ENSP00000349635.5:p.Arg836_Leu839delinsGlnVal
ENST00000371113.8:c.2531_2539delinsAAG	ENSP00000360154.4:p.Arg844_Leu847delinsGlnVal
ENST00000463271.1:n.318_326delinsAAG
NM_000276.3:c.2531_2539delinsAAG	NP_000267.2:p.Arg844_Leu847delinsGlnVal
NM_001587.3:c.2507_2515delinsAAG	NP_001578.2:p.Arg836_Leu839delinsGlnVal
XM_005262422.1:c.2060_2068delinsAAG	XP_005262479.1:p.Arg687_Leu690delinsGlnVal
XM_011531342.1:c.2534_2542delinsAAG	XP_011529644.1:p.Arg845_Leu848delinsGlnVal
XM_011531343.1:c.2510_2518delinsAAG	XP_011529645.1:p.Arg837_Leu840delinsGlnVal
XM_011531344.1:c.2387_2395delinsAAG	XP_011529646.1:p.Arg796_Leu799delinsGlnVal
XM_011531345.1:c.2387_2395delinsAAG	XP_011529647.1:p.Arg796_Leu799delinsGlnVal
NM_001318784.1:c.2534_2542delinsAAG	NP_001305713.1:p.Arg845_Leu848delinsGlnVal
XM_005262422.2:c.2060_2068delinsAAG	XP_005262479.1:p.Arg687_Leu690delinsGlnVal
XM_011531344.3:c.2387_2395delinsAAG	XP_011529646.1:p.Arg796_Leu799delinsGlnVal
XM_011531345.3:c.2387_2395delinsAAG	XP_011529647.1:p.Arg796_Leu799delinsGlnVal
NM_000276.4:c.2531_2539delinsAAG MANE Select	NP_000267.2:p.Arg844_Leu847delinsGlnVal
NM_001318784.2:c.2534_2542delinsAAG	NP_001305713.1:p.Arg845_Leu848delinsGlnVal
NM_001587.4:c.2507_2515delinsAAG	NP_001578.2:p.Arg836_Leu839delinsGlnVal