Canonical Allele Identifier: CA1039985405

Gene: FRZB

Linked Data

• dbSNP Id: rs1695556388
• gnomAD v3: 2-182838838-G-GGAAAGAGAGCAGCCACA
• gnomAD v4: 2-182838838-G-GGAAAGAGAGCAGCCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182838838_182838839insGAAAGAGAGCAGCCACA , CM000664.2:g.182838838_182838839insGAAAGAGAGCAGCCACA	GRCh38
NC_000002.11:g.183703566_183703567insGAAAGAGAGCAGCCACA , CM000664.1:g.183703566_183703567insGAAAGAGAGCAGCCACA	GRCh37
NC_000002.10:g.183411811_183411812insGAAAGAGAGCAGCCACA	NCBI36
NG_017197.1:g.32932_32933insTGTGGCTGCTCTCTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295113.5:c.593-226_593-225insTGTGGCTGCTCTCTTTC MANE Select	ENSP00000295113.4:n.593-226_593-225insTGTGGCTGCTCTCTTTC
ENST00000295113.4:c.593-226_593-225insTGTGGCTGCTCTCTTTC	ENSP00000295113.4:n.593-226_593-225insTGTGGCTGCTCTCTTTC
NM_001463.3:c.593-226_593-225insTGTGGCTGCTCTCTTTC	NP_001454.2:n.593-226_593-225insTGTGGCTGCTCTCTTTC
NM_001463.4:c.593-226_593-225insTGTGGCTGCTCTCTTTC MANE Select	NP_001454.2:n.593-226_593-225insTGTGGCTGCTCTCTTTC