Canonical Allele Identifier: CA2815263916

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644631_10644638del , CM000682.2:g.10644631_10644638del	GRCh38
NC_000020.10:g.10625279_10625286del , CM000682.1:g.10625279_10625286del	GRCh37
NC_000020.9:g.10573279_10573286del	NCBI36
NG_007496.1:g.34410_34417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+226_2344+233del MANE Select	ENSP00000254958.4:n.2344+226_2344+233del
ENST00000617965.2:n.2933+226_2933+233del
ENST00000254958.9:c.2344+226_2344+233del	ENSP00000254958.4:n.2344+226_2344+233del
ENST00000423891.6:n.2210+226_2210+233del
ENST00000488480.2:n.967_974del
NM_000214.2:c.2344+226_2344+233del	NP_000205.1:n.2344+226_2344+233del
NM_000214.3:c.2344+226_2344+233del MANE Select	NP_000205.1:n.2344+226_2344+233del