Canonical Allele Identifier: CA1077228973

Gene: OCLN

Linked Data

• gnomAD v3: 5-69534807-GT-G
• gnomAD v4: 5-69534807-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69534811del , CM000667.2:g.69534811del	GRCh38
NC_000005.9:g.68830638del , CM000667.1:g.68830638del	GRCh37
NC_000005.8:g.68866394del	NCBI36
NG_028291.1:g.47520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396442.7:c.1009del MANE Select	ENSP00000379719.2:p.Tyr337IlefsTer20
ENST00000680027.1:c.1009del	ENSP00000506162.1:p.Tyr337IlefsTer20
ENST00000680496.1:c.847del	ENSP00000504966.1:p.Tyr283IlefsTer20
ENST00000680784.1:c.847del	ENSP00000506305.1:p.Tyr283IlefsTer20
ENST00000681041.1:c.1009del	ENSP00000505426.1:p.Tyr337IlefsTer20
ENST00000681586.1:c.1009del	ENSP00000505541.1:p.Tyr337IlefsTer20
ENST00000681588.1:c.*185del	ENSP00000506017.1:n.*185del
ENST00000681895.1:c.1009del	ENSP00000505831.1:p.Tyr337IlefsTer17
ENST00000355237.6:c.1009del	ENSP00000347379.2:p.Tyr337IlefsTer20
ENST00000396442.6:c.1009del	ENSP00000379719.2:p.Tyr337IlefsTer20
ENST00000538151.2:c.256del	ENSP00000445940.1:p.Tyr86IlefsTer20
NM_001205254.1:c.1009del	NP_001192183.1:p.Tyr337IlefsTer20
NM_001205255.1:c.256del	NP_001192184.1:p.Tyr86IlefsTer20
NM_002538.3:c.1009del	NP_002529.1:p.Tyr337IlefsTer20
XM_017008913.2:c.847del	XP_016864402.1:p.Tyr283IlefsTer20
XM_017008914.2:c.847del	XP_016864403.1:p.Tyr283IlefsTer20
NM_001205254.2:c.1009del MANE Select	NP_001192183.1:p.Tyr337IlefsTer20
NM_002538.4:c.1009del	NP_002529.1:p.Tyr337IlefsTer20