Canonical Allele Identifier: CA2651913741
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10643993-AAAG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643996_10643998del , CM000682.2:g.10643996_10643998del GRCh38
NC_000020.10:g.10624644_10624646del , CM000682.1:g.10624644_10624646del GRCh37
NC_000020.9:g.10572644_10572646del NCBI36
NG_007496.1:g.35051_35053del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-133_2373-131del MANE Select ENSP00000254958.4:n.2373-133_2373-131del
ENST00000617965.2:n.2962-133_2962-131del
ENST00000254958.9:c.2373-133_2373-131del ENSP00000254958.4:n.2373-133_2373-131del
ENST00000423891.6:n.2239-133_2239-131del
NM_000214.2:c.2373-133_2373-131del NP_000205.1:n.2373-133_2373-131del
NM_000214.3:c.2373-133_2373-131del MANE Select NP_000205.1:n.2373-133_2373-131del
Search 100 bp 5'
Search 100 bp 3'