Canonical Allele Identifier: CA2815263893

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644611_10644612insTCTGCTCTTCTTTTATAGCCCGAAAC , CM000682.2:g.10644611_10644612insTCTGCTCTTCTTTTATAGCCCGAAAC	GRCh38
NC_000020.10:g.10625259_10625260insTCTGCTCTTCTTTTATAGCCCGAAAC , CM000682.1:g.10625259_10625260insTCTGCTCTTCTTTTATAGCCCGAAAC	GRCh37
NC_000020.9:g.10573259_10573260insTCTGCTCTTCTTTTATAGCCCGAAAC	NCBI36
NG_007496.1:g.34435_34436insGTTTCGGGCTATAAAAGAAGAGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2345-228_2345-227insGTTTCGGGCTATAAAAGAAGAGCAGA MANE Select	ENSP00000254958.4:n.2345-228_2345-227insGTTTCGGGCTATAAAAGAAGA...
ENST00000617965.2:n.2934-228_2934-227insGTTTCGGGCTATAAAAGAAGAGCAGA
ENST00000254958.9:c.2345-228_2345-227insGTTTCGGGCTATAAAAGAAGAGCAGA	ENSP00000254958.4:n.2345-228_2345-227insGTTTCGGGCTATAAAAGAAGA...
ENST00000423891.6:n.2211-228_2211-227insGTTTCGGGCTATAAAAGAAGAGCAGA
ENST00000488480.2:n.992_993insGTTTCGGGCTATAAAAGAAGAGCAGA
NM_000214.2:c.2345-228_2345-227insGTTTCGGGCTATAAAAGAAGAGCAGA	NP_000205.1:n.2345-228_2345-227insGTTTCGGGCTATAAAAGAAGAGCAGA
NM_000214.3:c.2345-228_2345-227insGTTTCGGGCTATAAAAGAAGAGCAGA MANE Select	NP_000205.1:n.2345-228_2345-227insGTTTCGGGCTATAAAAGAAGAGCAGA