Canonical Allele Identifier: CA2815263871

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644604_10644611del , CM000682.2:g.10644604_10644611del	GRCh38
NC_000020.10:g.10625252_10625259del , CM000682.1:g.10625252_10625259del	GRCh37
NC_000020.9:g.10573252_10573259del	NCBI36
NG_007496.1:g.34437_34444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2345-226_2345-219del MANE Select	ENSP00000254958.4:n.2345-226_2345-219del
ENST00000617965.2:n.2934-226_2934-219del
ENST00000254958.9:c.2345-226_2345-219del	ENSP00000254958.4:n.2345-226_2345-219del
ENST00000423891.6:n.2211-226_2211-219del
ENST00000488480.2:n.994_1001del
NM_000214.2:c.2345-226_2345-219del	NP_000205.1:n.2345-226_2345-219del
NM_000214.3:c.2345-226_2345-219del MANE Select	NP_000205.1:n.2345-226_2345-219del