Canonical Allele Identifier: CA311357647
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1005965765
gnomAD v4: 20-10673761-CTTCT-C
MyVariant Identifiers: chr20:g.10654410_10654413del (hg19) chr20:g.10673762_10673765del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673764_10673767del , CM000682.2:g.10673764_10673767del GRCh38
NC_000020.10:g.10654412_10654415del , CM000682.1:g.10654412_10654415del GRCh37
NC_000020.9:g.10602412_10602415del NCBI36
NG_007496.1:g.5282_5285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-235_-232del MANE Select ENSP00000254958.4:n.-235_-232del
ENST00000254958.9:c.-235_-232del ENSP00000254958.4:n.-235_-232del
NM_000214.2:c.-235_-232del NP_000205.1:n.-235_-232del
NM_000214.3:c.-235_-232del MANE Select NP_000205.1:n.-235_-232del
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