Canonical Allele Identifier: CA170704
Gene: POC1B HGNC NCBI

Linked Data

ClinVar Variation Id: 155770
ClinVar RCV Id: RCV000143863
dbSNP Id: rs587777693
gnomAD v2: 12-89891018-ACTG-A
gnomAD v4: 12-89497241-ACTG-A
MyVariant Identifiers: chr12:g.89891019_89891021del (hg19) chr12:g.89497242_89497244del (hg38)
PubMed: PMID:25018096
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.89497243_89497245del , CM000674.2:g.89497243_89497245del GRCh38
NC_000012.11:g.89891020_89891022del , CM000674.1:g.89891020_89891022del GRCh37
NC_000012.10:g.88415151_88415153del NCBI36
NG_041783.1:g.34019_34021del

Transcript Alleles

HGVS Amino-acid change
ENST00000313546.8:c.199_201del MANE Select ENSP00000323302.3:p.Gln67del
ENST00000313546.7:c.199_201del ENSP00000323302.3:p.Gln67del
ENST00000393179.8:c.-118-5129_-118-5127del ENSP00000376877.4:n.-118-5129_-118-5127de...
ENST00000539190.6:n.297_299del
ENST00000546830.1:c.199_201del ENSP00000449256.1:p.Gln67del
ENST00000547274.5:c.101-5129_101-5127del ENSP00000449648.1:n.101-5129_101-5127del
ENST00000547496.5:c.101-5129_101-5127del ENSP00000447437.1:n.101-5129_101-5127del
ENST00000548715.5:c.101-5129_101-5127del ENSP00000449945.1:n.101-5129_101-5127del
ENST00000549035.1:c.73_75del ENSP00000447916.1:p.Gln25del
ENST00000549504.1:c.-118-5129_-118-5127del ENSP00000450118.1:n.-118-5129_-118-5127de...
ENST00000552563.1:n.297-5129_297-5127del
NM_001199777.1:c.73_75del NP_001186706.1:p.Gln25del
NM_172240.2:c.199_201del NP_758440.1:p.Gln67del
NR_037659.1:n.468-5129_468-5127del
NR_037660.1:n.449-5129_449-5127del
NM_172240.3:c.199_201del MANE Select NP_758440.1:p.Gln67del
NM_001199777.2:c.73_75del NP_001186706.1:p.Gln25del
NR_037659.2:n.253-5129_253-5127del
NR_037660.2:n.312-5129_312-5127del
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