×
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:
CA626074393
Gene:
Linked Data
dbSNP Id:
rs1410100924
gnomAD v2:
17-41191539-CAT-C
gnomAD v3:
17-43039522-CAT-C
gnomAD v4:
17-43039522-CAT-C
MyVariant Identifiers:
chr17:g.41191540_41191541del (hg19)
chr17:g.43039523_43039524del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43039524_43039525del , CM000679.2:g.43039524_43039525del
GRCh38
NC_000017.10:g.41191541_41191542del , CM000679.1:g.41191541_41191542del
GRCh37
NC_000017.9:g.38445067_38445068del
NCBI36
NG_005905.2:g.178460_178461del , LRG_292:g.178460_178461del
Search 100 bp 5'
Search 100 bp 3'