×
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:
CA2810673895
Gene: FN3KRP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.82727666del , CM000679.2:g.82727666del
GRCh38
NC_000017.10:g.80685542del , CM000679.1:g.80685542del
GRCh37
NC_000017.9:g.78278831del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000269373.11:c.*495del
MANE Select
ENSP00000269373.6:n.*495del
ENST00000269373.10:c.*495del
ENSP00000269373.6:n.*495del
ENST00000571594.1:c.53+499del
ENSP00000459751.1:n.53+499del
NM_024619.3:c.*495del
NP_078895.2:n.*495del
NR_046408.1:n.1603del
XM_024450948.1:c.*495del
XP_024306716.1:n.*495del
NM_024619.4:c.*495del
MANE Select
NP_078895.2:n.*495del
NR_046408.2:n.1603del
Search 100 bp 5'
Search 100 bp 3'