Canonical Allele Identifier: CA2577338140

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644955_10644958del , CM000682.2:g.10644955_10644958del	GRCh38
NC_000020.10:g.10625603_10625606del , CM000682.1:g.10625603_10625606del	GRCh37
NC_000020.9:g.10573603_10573606del	NCBI36
NG_007496.1:g.34091_34094del

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.2251_2254del MANE Select	ENSP00000254958.4:p.Asn751ProfsTer?
ENST00000617965.2:n.2840_2843del
ENST00000254958.9:c.2251_2254del	ENSP00000254958.4:p.Asn751ProfsTer?
ENST00000423891.6:n.2117_2120del
ENST00000488480.2:n.648_651del
NM_000214.2:c.2251_2254del	NP_000205.1:p.Asn751ProfsTer?
NM_000214.3:c.2251_2254del MANE Select	NP_000205.1:p.Asn751ProfsTer?