×
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:
CA2651914633
Gene: JAG1
HGNC
NCBI
Linked Data
gnomAD v4:
20-10645290-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.10645295del , CM000682.2:g.10645295del
GRCh38
NC_000020.10:g.10625943del , CM000682.1:g.10625943del
GRCh37
NC_000020.9:g.10573943del
NCBI36
NG_007496.1:g.33756del
Transcript Alleles
HGVS
Amino-acid change
ENST00000254958.10:c.2114-35del
MANE Select
ENSP00000254958.4:n.2114-35del
ENST00000617965.2:n.2703-35del
ENST00000254958.9:c.2114-35del
ENSP00000254958.4:n.2114-35del
ENST00000423891.6:n.1980-35del
ENST00000488480.2:n.511-35del
NM_000214.2:c.2114-35del
NP_000205.1:n.2114-35del
NM_000214.3:c.2114-35del
MANE Select
NP_000205.1:n.2114-35del
Search 100 bp 5'
Search 100 bp 3'