×
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:
CA578882603
Gene:
Linked Data
dbSNP Id:
rs1219244323
gnomAD v2:
7-148257861-AAAT-A
gnomAD v3:
7-148560769-AAAT-A
gnomAD v4:
7-148560769-AAAT-A
MyVariant Identifiers:
chr7:g.148257862_148257864del (hg19)
chr7:g.148560770_148560772del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.148560772_148560774del , CM000669.2:g.148560772_148560774del
GRCh38
NC_000007.13:g.148257864_148257866del , CM000669.1:g.148257864_148257866del
GRCh37
NC_000007.12:g.147888797_147888799del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928099.1:n.300+7328_300+7330del
XR_928100.1:n.433+7328_433+7330del
Search 100 bp 5'
Search 100 bp 3'