Canonical Allele Identifier: CA2815264152
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652392_10652398del , CM000682.2:g.10652392_10652398del GRCh38
NC_000020.10:g.10633040_10633046del , CM000682.1:g.10633040_10633046del GRCh37
NC_000020.9:g.10581040_10581046del NCBI36
NG_007496.1:g.26649_26655del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.886+70_886+76del MANE Select ENSP00000254958.4:n.886+70_886+76del
ENST00000617965.2:n.255+70_255+76del
ENST00000254958.9:c.886+70_886+76del ENSP00000254958.4:n.886+70_886+76del
ENST00000423891.6:n.752+70_752+76del
ENST00000617965.1:n.255+70_255+76del
NM_000214.2:c.886+70_886+76del NP_000205.1:n.886+70_886+76del
NM_000214.3:c.886+70_886+76del MANE Select NP_000205.1:n.886+70_886+76del