Canonical Allele Identifier: CA2651914379

Gene: JAG1

Linked Data

• gnomAD v4: 20-10644616-TGGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644620_10644623del , CM000682.2:g.10644620_10644623del	GRCh38
NC_000020.10:g.10625268_10625271del , CM000682.1:g.10625268_10625271del	GRCh37
NC_000020.9:g.10573268_10573271del	NCBI36
NG_007496.1:g.34427_34430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2345-236_2345-233del MANE Select	ENSP00000254958.4:n.2345-236_2345-233del
ENST00000617965.2:n.2934-236_2934-233del
ENST00000254958.9:c.2345-236_2345-233del	ENSP00000254958.4:n.2345-236_2345-233del
ENST00000423891.6:n.2211-236_2211-233del
ENST00000488480.2:n.984_987del
NM_000214.2:c.2345-236_2345-233del	NP_000205.1:n.2345-236_2345-233del
NM_000214.3:c.2345-236_2345-233del MANE Select	NP_000205.1:n.2345-236_2345-233del