Canonical Allele Identifier: CA9765089
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs764197013
ExAC: 20:10639067 GAC / G
gnomAD v2: 20-10639067-GAC-G
gnomAD v4: 20-10658419-GAC-G
MyVariant Identifiers: chr20:g.10639068_10639069del (hg19) chr20:g.10658420_10658421del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658422_10658423del , CM000682.2:g.10658422_10658423del GRCh38
NC_000020.10:g.10639070_10639071del , CM000682.1:g.10639070_10639071del GRCh37
NC_000020.9:g.10587070_10587071del NCBI36
NG_007496.1:g.20626_20627del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+47_694+48del MANE Select ENSP00000254958.4:n.694+47_694+48del
ENST00000254958.9:c.694+47_694+48del ENSP00000254958.4:n.694+47_694+48del
ENST00000423891.6:n.560+47_560+48del
NM_000214.2:c.694+47_694+48del NP_000205.1:n.694+47_694+48del
NM_000214.3:c.694+47_694+48del MANE Select NP_000205.1:n.694+47_694+48del
Search 100 bp 5'
Search 100 bp 3'