×
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:
CA2514932742
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.118079630_118079631del , CM000664.2:g.118079630_118079631del
GRCh38
NC_000002.11:g.118837206_118837207del , CM000664.1:g.118837206_118837207del
GRCh37
NC_000002.10:g.118553676_118553677del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011512305.1:c.697-2096_697-2095del
XP_011510607.1:n.697-2096_697-2095del
XR_001739662.2:n.138+8623_138+8624del
Search 100 bp 5'
Search 100 bp 3'