Canonical Allele Identifier: CA2349882007
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067290624

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643949_10643950del , CM000682.2:g.10643949_10643950del GRCh38
NC_000020.10:g.10624597_10624598del , CM000682.1:g.10624597_10624598del GRCh37
NC_000020.9:g.10572597_10572598del NCBI36
NG_007496.1:g.35098_35099del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-86_2373-85del MANE Select ENSP00000254958.4:n.2373-86_2373-85del
ENST00000617965.2:n.2962-86_2962-85del
ENST00000254958.9:c.2373-86_2373-85del ENSP00000254958.4:n.2373-86_2373-85del
ENST00000423891.6:n.2239-86_2239-85del
NM_000214.2:c.2373-86_2373-85del NP_000205.1:n.2373-86_2373-85del
NM_000214.3:c.2373-86_2373-85del MANE Select NP_000205.1:n.2373-86_2373-85del