Canonical Allele Identifier: CA634454803
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1237563309
gnomAD v2: 20-10637117-CAG-C
gnomAD v4: 20-10656469-CAG-C
MyVariant Identifiers: chr20:g.10637118_10637119del (hg19) chr20:g.10656470_10656471del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656473_10656474del , CM000682.2:g.10656473_10656474del GRCh38
NC_000020.10:g.10637121_10637122del , CM000682.1:g.10637121_10637122del GRCh37
NC_000020.9:g.10585121_10585122del NCBI36
NG_007496.1:g.22576_22577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.695-13_695-12del MANE Select ENSP00000254958.4:n.695-13_695-12del
ENST00000254958.9:c.695-13_695-12del ENSP00000254958.4:n.695-13_695-12del
ENST00000423891.6:n.561-13_561-12del
NM_000214.2:c.695-13_695-12del NP_000205.1:n.695-13_695-12del
NM_000214.3:c.695-13_695-12del MANE Select NP_000205.1:n.695-13_695-12del
Search 100 bp 5'
Search 100 bp 3'