Canonical Allele Identifier: CA2651916715

Gene: JAG1

Linked Data

• gnomAD v4: 20-10652664-A-ACGGCTAACC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10652664_10652665insCGGCTAACC , CM000682.2:g.10652664_10652665insCGGCTAACC	GRCh38
NC_000020.10:g.10633312_10633313insCGGCTAACC , CM000682.1:g.10633312_10633313insCGGCTAACC	GRCh37
NC_000020.9:g.10581312_10581313insCGGCTAACC	NCBI36
NG_007496.1:g.26382_26383insGGTTAGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.756-67_756-66insGGTTAGCCG MANE Select	ENSP00000254958.4:n.756-67_756-66insGGTTAGCCG
ENST00000617965.2:n.58_59insGGTTAGCCG
ENST00000254958.9:c.756-67_756-66insGGTTAGCCG	ENSP00000254958.4:n.756-67_756-66insGGTTAGCCG
ENST00000423891.6:n.622-67_622-66insGGTTAGCCG
ENST00000617965.1:n.58_59insGGTTAGCCG
NM_000214.2:c.756-67_756-66insGGTTAGCCG	NP_000205.1:n.756-67_756-66insGGTTAGCCG
NM_000214.3:c.756-67_756-66insGGTTAGCCG MANE Select	NP_000205.1:n.756-67_756-66insGGTTAGCCG