×
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:
CA657091024
Gene:
Linked Data
dbSNP Id:
rs1194037611
COSMIC:
COSN25534462
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.20218266del , CM000681.2:g.20218266del
GRCh38
NC_000019.9:g.20329075del , CM000681.1:g.20329075del
GRCh37
NC_000019.8:g.20190075del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_936388.1:n.619-943del
XR_936389.1:n.502-943del
XR_936390.1:n.511-943del
XR_936391.1:n.514-943del
XR_936392.1:n.514-943del
XR_936394.1:n.41-468del
XR_001754063.2:n.1506-943del
XR_001754064.2:n.138-943del
XR_001754066.1:n.3912-943del
XR_001754067.1:n.3912-943del
XR_001754068.1:n.3912-943del
XR_936394.2:n.41-468del
XR_936406.2:n.1411-943del
Search 100 bp 5'
Search 100 bp 3'