Canonical Allele Identifier: CA1039985406

Gene: FRZB

Linked Data

• dbSNP Id: rs1695556431
• gnomAD v3: 2-182838843-T-TTTGCTG
• gnomAD v4: 2-182838843-T-TTTGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182838843_182838844insTTGCTG , CM000664.2:g.182838843_182838844insTTGCTG	GRCh38
NC_000002.11:g.183703571_183703572insTTGCTG , CM000664.1:g.183703571_183703572insTTGCTG	GRCh37
NC_000002.10:g.183411816_183411817insTTGCTG	NCBI36
NG_017197.1:g.32927_32928insCAGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295113.5:c.593-231_593-230insCAGCAA MANE Select	ENSP00000295113.4:n.593-231_593-230insCAGCAA
ENST00000295113.4:c.593-231_593-230insCAGCAA	ENSP00000295113.4:n.593-231_593-230insCAGCAA
NM_001463.3:c.593-231_593-230insCAGCAA	NP_001454.2:n.593-231_593-230insCAGCAA
NM_001463.4:c.593-231_593-230insCAGCAA MANE Select	NP_001454.2:n.593-231_593-230insCAGCAA