Canonical Allele Identifier: CA2662236494

Gene: FRZB

Linked Data

• gnomAD v4: 2-182838741-A-AATACAGGCTTACCTTAACTTTTTTACCG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182838742_182838743insTACAGGCTTACCTTAACTTTTTTACCGA , CM000664.2:g.182838742_182838743insTACAGGCTTACCTTAACTTTTTTACCGA	GRCh38
NC_000002.11:g.183703470_183703471insTACAGGCTTACCTTAACTTTTTTACCGA , CM000664.1:g.183703470_183703471insTACAGGCTTACCTTAACTTTTTTACCGA	GRCh37
NC_000002.10:g.183411715_183411716insTACAGGCTTACCTTAACTTTTTTACCGA	NCBI36
NG_017197.1:g.33029_33030insCGGTAAAAAAGTTAAGGTAAGCCTGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295113.5:c.593-129_593-128insCGGTAAAAAAGTTAAGGTAAGCCTGTAT MANE Select	ENSP00000295113.4:n.593-129_593-128insCGGTAAAAAAGTTAAGGTAAGCC...
ENST00000295113.4:c.593-129_593-128insCGGTAAAAAAGTTAAGGTAAGCCTGTAT	ENSP00000295113.4:n.593-129_593-128insCGGTAAAAAAGTTAAGGTAAGCC...
NM_001463.3:c.593-129_593-128insCGGTAAAAAAGTTAAGGTAAGCCTGTAT	NP_001454.2:n.593-129_593-128insCGGTAAAAAAGTTAAGGTAAGCCTGTAT
NM_001463.4:c.593-129_593-128insCGGTAAAAAAGTTAAGGTAAGCCTGTAT MANE Select	NP_001454.2:n.593-129_593-128insCGGTAAAAAAGTTAAGGTAAGCCTGTAT