Canonical Allele Identifier: CA2674136488

Gene: OCLN

Linked Data

• gnomAD v4: 5-69534744-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69534746_69534747del , CM000667.2:g.69534746_69534747del	GRCh38
NC_000005.9:g.68830573_68830574del , CM000667.1:g.68830573_68830574del	GRCh37
NC_000005.8:g.68866329_68866330del	NCBI36
NG_028291.1:g.47455_47456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396442.7:c.944_945del MANE Select	ENSP00000379719.2:p.Tyr315CysfsTer5
ENST00000680027.1:c.944_945del	ENSP00000506162.1:p.Tyr315CysfsTer5
ENST00000680496.1:c.782_783del	ENSP00000504966.1:p.Tyr261CysfsTer5
ENST00000680784.1:c.782_783del	ENSP00000506305.1:p.Tyr261CysfsTer5
ENST00000681041.1:c.944_945del	ENSP00000505426.1:p.Tyr315CysfsTer5
ENST00000681586.1:c.944_945del	ENSP00000505541.1:p.Tyr315CysfsTer5
ENST00000681588.1:c.*120_*121del	ENSP00000506017.1:n.*120_*121del
ENST00000681895.1:c.944_945del	ENSP00000505831.1:p.Tyr315CysfsTer5
ENST00000355237.6:c.944_945del	ENSP00000347379.2:p.Tyr315CysfsTer5
ENST00000396442.6:c.944_945del	ENSP00000379719.2:p.Tyr315CysfsTer5
ENST00000538151.2:c.191_192del	ENSP00000445940.1:p.Tyr64CysfsTer5
NM_001205254.1:c.944_945del	NP_001192183.1:p.Tyr315CysfsTer5
NM_001205255.1:c.191_192del	NP_001192184.1:p.Tyr64CysfsTer5
NM_002538.3:c.944_945del	NP_002529.1:p.Tyr315CysfsTer5
XM_017008913.2:c.782_783del	XP_016864402.1:p.Tyr261CysfsTer5
XM_017008914.2:c.782_783del	XP_016864403.1:p.Tyr261CysfsTer5
NM_001205254.2:c.944_945del MANE Select	NP_001192183.1:p.Tyr315CysfsTer5
NM_002538.4:c.944_945del	NP_002529.1:p.Tyr315CysfsTer5