Canonical Allele Identifier: CA2832576109
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644850_10644851dup , CM000682.2:g.10644850_10644851dup GRCh38
NC_000020.10:g.10625498_10625499dup , CM000682.1:g.10625498_10625499dup GRCh37
NC_000020.9:g.10573498_10573499dup NCBI36
NG_007496.1:g.34200_34201dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+16_2344+17dup MANE Select ENSP00000254958.4:n.2344+16_2344+17dup
ENST00000617965.2:n.2933+16_2933+17dup
ENST00000254958.9:c.2344+16_2344+17dup ENSP00000254958.4:n.2344+16_2344+17dup
ENST00000423891.6:n.2210+16_2210+17dup
ENST00000488480.2:n.757_758dup
NM_000214.2:c.2344+16_2344+17dup NP_000205.1:n.2344+16_2344+17dup
NM_000214.3:c.2344+16_2344+17dup MANE Select NP_000205.1:n.2344+16_2344+17dup