Canonical Allele Identifier: CA273530

Gene: JAG1

Linked Data

• ClinVar Variation Id: 177941
• ClinVar RCV Id: RCV000154602 ; RCV000199484 ; RCV000844632 ; RCV001197474 ; RCV001328149 ; RCV004551336
• dbSNP Id: rs727504412
• gnomAD v4: 20-10645244-CACTG-C
• MyVariant Identifiers: chr20:g.10625893_10625896del (hg19) ; chr20:g.10645245_10645248del (hg38)
• PubMed: PMID:9207788 ; PMID:10220506 ; PMID:12442286 ; PMID:15712272

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10645249_10645252del , CM000682.2:g.10645249_10645252del	GRCh38
NC_000020.10:g.10625897_10625900del , CM000682.1:g.10625897_10625900del	GRCh37
NC_000020.9:g.10573897_10573900del	NCBI36
NG_007496.1:g.33799_33802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2122_2125del MANE Select	ENSP00000254958.4:p.Gln708ValfsTer?
ENST00000617965.2:n.2711_2714del
ENST00000254958.9:c.2122_2125del	ENSP00000254958.4:p.Gln708ValfsTer?
ENST00000423891.6:n.1988_1991del
ENST00000488480.2:n.519_522del
NM_000214.2:c.2122_2125del	NP_000205.1:p.Gln708ValfsTer?
NM_000214.3:c.2122_2125del MANE Select	NP_000205.1:p.Gln708ValfsTer?