Canonical Allele Identifier: CA2600770743

Gene: POC1B

Linked Data

• gnomAD v3: 12-89503565-C-CCCGGCCACCATCCCGTCTAGGAAGTGAGGAGCCCCTCTGCCCGG
• gnomAD v4: 12-89503565-C-CCCGGCCACCATCCCGTCTAGGAAGTGAGGAGCCCCTCTGCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.89503597_89503598insCCCTCTGCCCGGCCGGCCACCATCCCGTCTAGGAAGTGAGGAGC , CM000674.2:g.89503597_89503598insCCCTCTGCCCGGCCGGCCACCATCCCGTCTAGGAAGTGAGGAGC	GRCh38
NC_000012.11:g.89897374_89897375insCCCTCTGCCCGGCCGGCCACCATCCCGTCTAGGAAGTGAGGAGC , CM000674.1:g.89897374_89897375insCCCTCTGCCCGGCCGGCCACCATCCCGTCTAGGAAGTGAGGAGC	GRCh37
NC_000012.10:g.88421505_88421506insCCCTCTGCCCGGCCGGCCACCATCCCGTCTAGGAAGTGAGGAGC	NCBI36
NG_041783.1:g.27697_27698insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313546.8:c.101-6224_101-6223insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG MANE Select	ENSP00000323302.3:n.101-6224_101-6223insCCGGGCAGAGGGGCTCCTCAC...
ENST00000313546.7:c.101-6224_101-6223insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	ENSP00000323302.3:n.101-6224_101-6223insCCGGGCAGAGGGGCTCCTCAC...
ENST00000393179.8:c.-118-11451_-118-11450insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	ENSP00000376877.4:n.-118-11451_-118-11450insCCGGGCAGAGGGGCTCC...
ENST00000539190.6:n.199-6224_199-6223insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG
ENST00000546830.1:c.101-6224_101-6223insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	ENSP00000449256.1:n.101-6224_101-6223insCCGGGCAGAGGGGCTCCTCAC...
ENST00000547274.5:c.101-11451_101-11450insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	ENSP00000449648.1:n.101-11451_101-11450insCCGGGCAGAGGGGCTCCTC...
ENST00000547496.5:c.101-11451_101-11450insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	ENSP00000447437.1:n.101-11451_101-11450insCCGGGCAGAGGGGCTCCTC...
ENST00000548715.5:c.101-11451_101-11450insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	ENSP00000449945.1:n.101-11451_101-11450insCCGGGCAGAGGGGCTCCTC...
ENST00000549035.1:c.-26-6224_-26-6223insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	ENSP00000447916.1:n.-26-6224_-26-6223insCCGGGCAGAGGGGCTCCTCAC...
ENST00000549504.1:c.-118-11451_-118-11450insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	ENSP00000450118.1:n.-118-11451_-118-11450insCCGGGCAGAGGGGCTCC...
ENST00000552563.1:n.297-11451_297-11450insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG
NM_001199777.1:c.-26-6224_-26-6223insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	NP_001186706.1:n.-26-6224_-26-6223insCCGGGCAGAGGGGCTCCTCACTTC...
NM_172240.2:c.101-6224_101-6223insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	NP_758440.1:n.101-6224_101-6223insCCGGGCAGAGGGGCTCCTCACTTCCTA...
NR_037659.1:n.468-11451_468-11450insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG
NR_037660.1:n.449-11451_449-11450insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG
NM_172240.3:c.101-6224_101-6223insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG MANE Select	NP_758440.1:n.101-6224_101-6223insCCGGGCAGAGGGGCTCCTCACTTCCTA...
NM_001199777.2:c.-26-6224_-26-6223insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG	NP_001186706.1:n.-26-6224_-26-6223insCCGGGCAGAGGGGCTCCTCACTTC...
NR_037659.2:n.253-11451_253-11450insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG
NR_037660.2:n.312-11451_312-11450insCCGGGCAGAGGGGCTCCTCACTTCCTAGACGGGATGGTGGCCGG