Canonical Allele Identifier: CA9765097
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2807741
ClinVar RCV Id: RCV003620669
dbSNP Id: rs112693360
ExAC: 20:10639098 GCA / G
gnomAD v2: 20-10639098-GCA-G
gnomAD v3: 20-10658450-GCA-G
gnomAD v4: 20-10658450-GCA-G
MyVariant Identifiers: chr20:g.10639099_10639100del (hg19) chr20:g.10658451_10658452del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658463_10658464del , CM000682.2:g.10658463_10658464del GRCh38
NC_000020.10:g.10639111_10639112del , CM000682.1:g.10639111_10639112del GRCh37
NC_000020.9:g.10587111_10587112del NCBI36
NG_007496.1:g.20595_20596del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+16_694+17del MANE Select ENSP00000254958.4:n.694+16_694+17del
ENST00000254958.9:c.694+16_694+17del ENSP00000254958.4:n.694+16_694+17del
ENST00000423891.6:n.560+16_560+17del
NM_000214.2:c.694+16_694+17del NP_000205.1:n.694+16_694+17del
NM_000214.3:c.694+16_694+17del MANE Select NP_000205.1:n.694+16_694+17del
Search 100 bp 5'
Search 100 bp 3'