×
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:
CA663909293
Gene: ITGB1
HGNC
NCBI
ITGB1-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1188370104
MyVariant Identifiers:
chr10:g.33294692del (hg19)
chr10:g.33005764del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.33005766del , CM000672.2:g.33005766del
GRCh38
NC_000010.10:g.33294694del , CM000672.1:g.33294694del
GRCh37
NC_000010.9:g.33334700del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000475184.6:n.29del
(ITGB1)
ENST00000475184.5:c.-150del
(ITGB1)
ENSP00000417243.1:n.-150del
XR_242755.2:n.220+20009del
(ITGB1-DT)
XR_001747416.1:n.2739+20009del
(ITGB1-DT)
Search 100 bp 5'
Search 100 bp 3'