×
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:
CA656360499
Gene: KRT14
HGNC
NCBI
Linked Data
COSMIC:
COSN231072
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41583494del , CM000679.2:g.41583494del
GRCh38
NC_000017.10:g.39739746del , CM000679.1:g.39739746del
GRCh37
NC_000017.9:g.36993272del
NCBI36
NG_008624.1:g.8402del
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.1054-39del
MANE Select
ENSP00000167586.6:n.1054-39del
ENST00000167586.6:c.1054-39del
ENSP00000167586.6:n.1054-39del
ENST00000476662.1:n.504-39del
NM_000526.4:c.1054-39del
NP_000517.2:n.1054-39del
NM_000526.5:c.1054-39del
MANE Select
NP_000517.3:n.1054-39del
Search 100 bp 5'
Search 100 bp 3'