Canonical Allele Identifier: CA2651919331

Gene: JAG1

Linked Data

• gnomAD v4: 20-10673375-GGGGCTCAACCGCCCAGGGCGCCGCGAGGGGAGGGAGAGGACGGCTGGGAGGGAGGCCCGGAGAAGGGCTCCTACCTTGGCTCGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673380_10673464del , CM000682.2:g.10673380_10673464del	GRCh38
NC_000020.10:g.10654028_10654112del , CM000682.1:g.10654028_10654112del	GRCh37
NC_000020.9:g.10602028_10602112del	NCBI36
NG_007496.1:g.5587_5671del

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.71_81+74del
ENST00000254958.9:c.71_81+74del
NM_000214.2:c.71_81+74del
NM_000214.3:c.71_81+74del