×
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:
CA2769060312
Gene: HAVCR2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.157110430_157110431insG , CM000667.2:g.157110430_157110431insG
GRCh38
NC_000005.9:g.156537441_156537442insG , CM000667.1:g.156537441_156537442insG
GRCh37
NC_000005.8:g.156470019_156470020insG
NCBI36
NG_030444.1:g.3807_3808insC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000524219.2:c.-293-3469_-293-3468insC
ENSP00000430328.2:n.-293-3469_-293-3468insC
ENST00000696899.1:c.-264-1184_-264-1183insC
ENSP00000512960.1:n.-264-1184_-264-1183insC
ENST00000524219.1:c.-293-3469_-293-3468insC
ENSP00000430328.1:n.-293-3469_-293-3468insC
Search 100 bp 5'
Search 100 bp 3'