Canonical Allele Identifier: CA2741652127
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644015_10644044dup , CM000682.2:g.10644015_10644044dup GRCh38
NC_000020.10:g.10624663_10624692dup , CM000682.1:g.10624663_10624692dup GRCh37
NC_000020.9:g.10572663_10572692dup NCBI36
NG_007496.1:g.35007_35036dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-177_2373-148dup MANE Select ENSP00000254958.4:n.2373-177_2373-148dup
ENST00000617965.2:n.2962-177_2962-148dup
ENST00000254958.9:c.2373-177_2373-148dup ENSP00000254958.4:n.2373-177_2373-148dup
ENST00000423891.6:n.2239-177_2239-148dup
NM_000214.2:c.2373-177_2373-148dup NP_000205.1:n.2373-177_2373-148dup
NM_000214.3:c.2373-177_2373-148dup MANE Select NP_000205.1:n.2373-177_2373-148dup