×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2608330521
Gene: FRMD4A
HGNC
NCBI
Linked Data
gnomAD v4:
10-14436506-C-CA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.14436507dup , CM000672.2:g.14436507dup
GRCh38
NC_000010.10:g.14478506dup , CM000672.1:g.14478506dup
GRCh37
NC_000010.9:g.14518512dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000475141.2:c.-305+25561dup
ENSP00000473870.1:n.-305+25561dup
ENST00000493380.5:c.-82+25561dup
ENSP00000474863.1:n.-82+25561dup
Search 100 bp 5'
Search 100 bp 3'