×
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:
CA821666683
Gene:
Linked Data
dbSNP Id:
rs1319370967
gnomAD v3:
6-160668659-GTGATGGTGGTGGAATGATGA-G
gnomAD v4:
6-160668659-GTGATGGTGGTGGAATGATGA-G
MyVariant Identifiers:
chr6:g.161089692_161089711del (hg19)
chr6:g.160668660_160668679del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668672_160668691del , CM000668.2:g.160668672_160668691del
GRCh38
NC_000006.11:g.161089704_161089723del , CM000668.1:g.161089704_161089723del
GRCh37
NC_000006.10:g.161009694_161009713del
NCBI36
NG_016147.1:g.2697_2716del
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2306_115-2287del
Search 100 bp 5'
Search 100 bp 3'