Canonical Allele Identifier: CA2815264416
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652686_10652690del , CM000682.2:g.10652686_10652690del GRCh38
NC_000020.10:g.10633334_10633338del , CM000682.1:g.10633334_10633338del GRCh37
NC_000020.9:g.10581334_10581338del NCBI36
NG_007496.1:g.26357_26361del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.756-92_756-88del MANE Select ENSP00000254958.4:n.756-92_756-88del
ENST00000617965.2:n.33_37del
ENST00000254958.9:c.756-92_756-88del ENSP00000254958.4:n.756-92_756-88del
ENST00000423891.6:n.622-92_622-88del
ENST00000617965.1:n.33_37del
NM_000214.2:c.756-92_756-88del NP_000205.1:n.756-92_756-88del
NM_000214.3:c.756-92_756-88del MANE Select NP_000205.1:n.756-92_756-88del