Canonical Allele Identifier: CA9765061
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs775373822
ExAC: 20:10636999 CA / C
gnomAD v2: 20-10636999-CA-C
gnomAD v4: 20-10656351-CA-C
MyVariant Identifiers: chr20:g.10637000del (hg19) chr20:g.10656352del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656352del , CM000682.2:g.10656352del GRCh38
NC_000020.10:g.10637000del , CM000682.1:g.10637000del GRCh37
NC_000020.9:g.10585000del NCBI36
NG_007496.1:g.22695del

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.755+46del MANE Select ENSP00000254958.4:n.755+46del
ENST00000254958.9:c.755+46del ENSP00000254958.4:n.755+46del
ENST00000423891.6:n.621+46del
NM_000214.2:c.755+46del NP_000205.1:n.755+46del
NM_000214.3:c.755+46del MANE Select NP_000205.1:n.755+46del
Search 100 bp 5'
Search 100 bp 3'