Canonical Allele Identifier: CA2349888350
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658409_10658410delinsGT , CM000682.2:g.10658409_10658410delinsGT GRCh38
NC_000020.10:g.10639057_10639058delinsGT , CM000682.1:g.10639057_10639058delinsGT GRCh37
NC_000020.9:g.10587057_10587058delinsGT NCBI36
NG_007496.1:g.20637_20638delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+58_694+59delinsAC MANE Select ENSP00000254958.4:n.694+58_694+59delinsAC
ENST00000254958.9:c.694+58_694+59delinsAC ENSP00000254958.4:n.694+58_694+59delinsAC
ENST00000423891.6:n.560+58_560+59delinsAC
NM_000214.2:c.694+58_694+59delinsAC NP_000205.1:n.694+58_694+59delinsAC
NM_000214.3:c.694+58_694+59delinsAC MANE Select NP_000205.1:n.694+58_694+59delinsAC