×
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:
CA2085925852
Gene: LHFPL6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.39329163_39329164delinsAG , CM000675.2:g.39329163_39329164delinsAG
GRCh38
NC_000013.10:g.39903300_39903301delinsAG , CM000675.1:g.39903300_39903301delinsAG
GRCh37
NC_000013.9:g.38801300_38801301delinsAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000648377.1:c.*82+14690_*82+14691delinsCT
ENSP00000496801.1:n.*82+14690_*82+14691delinsCT
XR_001749845.1:n.1449+7107_1449+7108delinsCT
Search 100 bp 5'
Search 100 bp 3'