Canonical Allele Identifier: CA2815262805
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658797_10658798del , CM000682.2:g.10658797_10658798del GRCh38
NC_000020.10:g.10639445_10639446del , CM000682.1:g.10639445_10639446del GRCh37
NC_000020.9:g.10587445_10587446del NCBI36
NG_007496.1:g.20250_20251del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-75_440-74del MANE Select ENSP00000254958.4:n.440-75_440-74del
ENST00000254958.9:c.440-75_440-74del ENSP00000254958.4:n.440-75_440-74del
ENST00000423891.6:n.306-75_306-74del
NM_000214.2:c.440-75_440-74del NP_000205.1:n.440-75_440-74del
NM_000214.3:c.440-75_440-74del MANE Select NP_000205.1:n.440-75_440-74del