Canonical Allele Identifier: CA2651914548
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10644849-GGGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644853_10644855del , CM000682.2:g.10644853_10644855del GRCh38
NC_000020.10:g.10625501_10625503del , CM000682.1:g.10625501_10625503del GRCh37
NC_000020.9:g.10573501_10573503del NCBI36
NG_007496.1:g.34195_34197del

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2344+11_2344+13del MANE Select ENSP00000254958.4:n.2344+11_2344+13del
ENST00000617965.2:n.2933+11_2933+13del
ENST00000254958.9:c.2344+11_2344+13del ENSP00000254958.4:n.2344+11_2344+13del
ENST00000423891.6:n.2210+11_2210+13del
ENST00000488480.2:n.752_754del
NM_000214.2:c.2344+11_2344+13del NP_000205.1:n.2344+11_2344+13del
NM_000214.3:c.2344+11_2344+13del MANE Select NP_000205.1:n.2344+11_2344+13del
Search 100 bp 5'
Search 100 bp 3'