Canonical Allele Identifier: CA741106793
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1391486478
gnomAD v3: 20-10658140-T-TA
gnomAD v4: 20-10658140-T-TA
MyVariant Identifiers: chr20:g.10638788_10638789insA (hg19) chr20:g.10658140_10658141insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658140_10658141insA , CM000682.2:g.10658140_10658141insA GRCh38
NC_000020.10:g.10638788_10638789insA , CM000682.1:g.10638788_10638789insA GRCh37
NC_000020.9:g.10586788_10586789insA NCBI36
NG_007496.1:g.20906_20907insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+327_694+328insT MANE Select ENSP00000254958.4:n.694+327_694+328insT
ENST00000254958.9:c.694+327_694+328insT ENSP00000254958.4:n.694+327_694+328insT
ENST00000423891.6:n.560+327_560+328insT
NM_000214.2:c.694+327_694+328insT NP_000205.1:n.694+327_694+328insT
NM_000214.3:c.694+327_694+328insT MANE Select NP_000205.1:n.694+327_694+328insT
Search 100 bp 5'
Search 100 bp 3'