Canonical Allele Identifier: CA2815263915

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644629_10644638del , CM000682.2:g.10644629_10644638del	GRCh38
NC_000020.10:g.10625277_10625286del , CM000682.1:g.10625277_10625286del	GRCh37
NC_000020.9:g.10573277_10573286del	NCBI36
NG_007496.1:g.34409_34418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+225_2344+234del MANE Select	ENSP00000254958.4:n.2344+225_2344+234del
ENST00000617965.2:n.2933+225_2933+234del
ENST00000254958.9:c.2344+225_2344+234del	ENSP00000254958.4:n.2344+225_2344+234del
ENST00000423891.6:n.2210+225_2210+234del
ENST00000488480.2:n.966_975del
NM_000214.2:c.2344+225_2344+234del	NP_000205.1:n.2344+225_2344+234del
NM_000214.3:c.2344+225_2344+234del MANE Select	NP_000205.1:n.2344+225_2344+234del