Canonical Allele Identifier: CA311345051
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs990848882
gnomAD v4: 20-10644645-A-AG
MyVariant Identifiers: chr20:g.10625293_10625294insG (hg19) chr20:g.10644645_10644646insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644646dup , CM000682.2:g.10644646dup GRCh38
NC_000020.10:g.10625294dup , CM000682.1:g.10625294dup GRCh37
NC_000020.9:g.10573294dup NCBI36
NG_007496.1:g.34401dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+217dup MANE Select ENSP00000254958.4:n.2344+217dup
ENST00000617965.2:n.2933+217dup
ENST00000254958.9:c.2344+217dup ENSP00000254958.4:n.2344+217dup
ENST00000423891.6:n.2210+217dup
ENST00000488480.2:n.958dup
NM_000214.2:c.2344+217dup NP_000205.1:n.2344+217dup
NM_000214.3:c.2344+217dup MANE Select NP_000205.1:n.2344+217dup
Search 100 bp 5'
Search 100 bp 3'