Canonical Allele Identifier: CA2651913687

Gene: JAG1

Linked Data

• gnomAD v4: 20-10643934-TCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10643938_10643940del , CM000682.2:g.10643938_10643940del	GRCh38
NC_000020.10:g.10624586_10624588del , CM000682.1:g.10624586_10624588del	GRCh37
NC_000020.9:g.10572586_10572588del	NCBI36
NG_007496.1:g.35110_35112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2373-74_2373-72del MANE Select	ENSP00000254958.4:n.2373-74_2373-72del
ENST00000617965.2:n.2962-74_2962-72del
ENST00000254958.9:c.2373-74_2373-72del	ENSP00000254958.4:n.2373-74_2373-72del
ENST00000423891.6:n.2239-74_2239-72del
NM_000214.2:c.2373-74_2373-72del	NP_000205.1:n.2373-74_2373-72del
NM_000214.3:c.2373-74_2373-72del MANE Select	NP_000205.1:n.2373-74_2373-72del