Canonical Allele Identifier: CA2815263941

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644649_10644650insACAT , CM000682.2:g.10644649_10644650insACAT	GRCh38
NC_000020.10:g.10625297_10625298insACAT , CM000682.1:g.10625297_10625298insACAT	GRCh37
NC_000020.9:g.10573297_10573298insACAT	NCBI36
NG_007496.1:g.34397_34398insATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+213_2344+214insATGT MANE Select	ENSP00000254958.4:n.2344+213_2344+214insATGT
ENST00000617965.2:n.2933+213_2933+214insATGT
ENST00000254958.9:c.2344+213_2344+214insATGT	ENSP00000254958.4:n.2344+213_2344+214insATGT
ENST00000423891.6:n.2210+213_2210+214insATGT
ENST00000488480.2:n.954_955insATGT
NM_000214.2:c.2344+213_2344+214insATGT	NP_000205.1:n.2344+213_2344+214insATGT
NM_000214.3:c.2344+213_2344+214insATGT MANE Select	NP_000205.1:n.2344+213_2344+214insATGT