Canonical Allele Identifier: CA2815263843

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644591_10644614del , CM000682.2:g.10644591_10644614del	GRCh38
NC_000020.10:g.10625239_10625262del , CM000682.1:g.10625239_10625262del	GRCh37
NC_000020.9:g.10573239_10573262del	NCBI36
NG_007496.1:g.34433_34456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2345-230_2345-207del MANE Select	ENSP00000254958.4:n.2345-230_2345-207del
ENST00000617965.2:n.2934-230_2934-207del
ENST00000254958.9:c.2345-230_2345-207del	ENSP00000254958.4:n.2345-230_2345-207del
ENST00000423891.6:n.2211-230_2211-207del
ENST00000488480.2:n.990_1013del
NM_000214.2:c.2345-230_2345-207del	NP_000205.1:n.2345-230_2345-207del
NM_000214.3:c.2345-230_2345-207del MANE Select	NP_000205.1:n.2345-230_2345-207del