Canonical Allele Identifier: CA2013930
Gene: FRZB HGNC NCBI

Linked Data

dbSNP Id: rs778822353
ExAC: 2:183703112 TCTGTATC / T
gnomAD v2: 2-183703112-TCTGTATC-T
gnomAD v3: 2-182838384-TCTGTATC-T
gnomAD v4: 2-182838384-TCTGTATC-T
MyVariant Identifiers: chr2:g.183703113_183703119del (hg19) chr2:g.182838385_182838391del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.182838387_182838393del , CM000664.2:g.182838387_182838393del GRCh38
NC_000002.11:g.183703115_183703121del , CM000664.1:g.183703115_183703121del GRCh37
NC_000002.10:g.183411360_183411366del NCBI36
NG_017197.1:g.33380_33386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295113.5:c.797+18_797+24del MANE Select ENSP00000295113.4:n.797+18_797+24del
ENST00000295113.4:c.797+18_797+24del ENSP00000295113.4:n.797+18_797+24del
NM_001463.3:c.797+18_797+24del NP_001454.2:n.797+18_797+24del
NM_001463.4:c.797+18_797+24del MANE Select NP_001454.2:n.797+18_797+24del
Search 100 bp 5'
Search 100 bp 3'