Canonical Allele Identifier: CA2815263168
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643946_10643947del , CM000682.2:g.10643946_10643947del GRCh38
NC_000020.10:g.10624594_10624595del , CM000682.1:g.10624594_10624595del GRCh37
NC_000020.9:g.10572594_10572595del NCBI36
NG_007496.1:g.35100_35101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-84_2373-83del MANE Select ENSP00000254958.4:n.2373-84_2373-83del
ENST00000617965.2:n.2962-84_2962-83del
ENST00000254958.9:c.2373-84_2373-83del ENSP00000254958.4:n.2373-84_2373-83del
ENST00000423891.6:n.2239-84_2239-83del
NM_000214.2:c.2373-84_2373-83del NP_000205.1:n.2373-84_2373-83del
NM_000214.3:c.2373-84_2373-83del MANE Select NP_000205.1:n.2373-84_2373-83del