Canonical Allele Identifier: CA1312515867
Gene: FRZB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838488_182838496delinsTGGTATAGA , CM000664.2:g.182838488_182838496delinsTGGTATAGA GRCh38
NC_000002.11:g.183703216_183703224delinsTGGTATAGA , CM000664.1:g.183703216_183703224delinsTGGTATAGA GRCh37
NC_000002.10:g.183411461_183411469delinsTGGTATAGA NCBI36
NG_017197.1:g.33275_33283delinsTCTATACCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.710_718delinsTCTATACCA MANE Select ENSP00000295113.4:p.Leu237=
ENST00000295113.4:c.710_718delinsTCTATACCA ENSP00000295113.4:p.Leu237=
NM_001463.3:c.710_718delinsTCTATACCA NP_001454.2:p.Leu237=
NM_001463.4:c.710_718delinsTCTATACCA MANE Select NP_001454.2:p.Leu237=