Canonical Allele Identifier: CA2577338053
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643931_10643932del , CM000682.2:g.10643931_10643932del GRCh38
NC_000020.10:g.10624579_10624580del , CM000682.1:g.10624579_10624580del GRCh37
NC_000020.9:g.10572579_10572580del NCBI36
NG_007496.1:g.35115_35116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-69_2373-68del MANE Select ENSP00000254958.4:n.2373-69_2373-68del
ENST00000617965.2:n.2962-69_2962-68del
ENST00000254958.9:c.2373-69_2373-68del ENSP00000254958.4:n.2373-69_2373-68del
ENST00000423891.6:n.2239-69_2239-68del
NM_000214.2:c.2373-69_2373-68del NP_000205.1:n.2373-69_2373-68del
NM_000214.3:c.2373-69_2373-68del MANE Select NP_000205.1:n.2373-69_2373-68del