Canonical Allele Identifier: CA2651913739
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10643991-TAAAAGAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643992_10643998del , CM000682.2:g.10643992_10643998del GRCh38
NC_000020.10:g.10624640_10624646del , CM000682.1:g.10624640_10624646del GRCh37
NC_000020.9:g.10572640_10572646del NCBI36
NG_007496.1:g.35049_35055del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-135_2373-129del MANE Select ENSP00000254958.4:n.2373-135_2373-129del
ENST00000617965.2:n.2962-135_2962-129del
ENST00000254958.9:c.2373-135_2373-129del ENSP00000254958.4:n.2373-135_2373-129del
ENST00000423891.6:n.2239-135_2239-129del
NM_000214.2:c.2373-135_2373-129del NP_000205.1:n.2373-135_2373-129del
NM_000214.3:c.2373-135_2373-129del MANE Select NP_000205.1:n.2373-135_2373-129del
Search 100 bp 5'
Search 100 bp 3'