Canonical Allele Identifier: CA2815263967
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644697_10644713del , CM000682.2:g.10644697_10644713del GRCh38
NC_000020.10:g.10625345_10625361del , CM000682.1:g.10625345_10625361del GRCh37
NC_000020.9:g.10573345_10573361del NCBI36
NG_007496.1:g.34334_34350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+150_2344+166del MANE Select ENSP00000254958.4:n.2344+150_2344+166del
ENST00000617965.2:n.2933+150_2933+166del
ENST00000254958.9:c.2344+150_2344+166del ENSP00000254958.4:n.2344+150_2344+166del
ENST00000423891.6:n.2210+150_2210+166del
ENST00000488480.2:n.891_907del
NM_000214.2:c.2344+150_2344+166del NP_000205.1:n.2344+150_2344+166del
NM_000214.3:c.2344+150_2344+166del MANE Select NP_000205.1:n.2344+150_2344+166del