×
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:
CA633313847
Gene:
Linked Data
dbSNP Id:
rs1568614795
gnomAD v2:
19-45408977-CAGCCCGCCCTATCCCTGGGGGAGGGGGCGGGACAGGGGG-C
gnomAD v3:
19-44905720-CAGCCCGCCCTATCCCTGGGGGAGGGGGCGGGACAGGGGG-C
gnomAD v4:
19-44905720-CAGCCCGCCCTATCCCTGGGGGAGGGGGCGGGACAGGGGG-C
MyVariant Identifiers:
chr19:g.45408978_45409016del (hg19)
chr19:g.44905721_44905759del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.44905726_44905764del , CM000681.2:g.44905726_44905764del
GRCh38
NC_000019.9:g.45408983_45409021del , CM000681.1:g.45408983_45409021del
GRCh37
NC_000019.8:g.50100823_50100861del
NCBI36
NG_007084.2:g.4945_4983del
Search 100 bp 5'
Search 100 bp 3'