Canonical Allele Identifier: CA2815263974

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644719_10644834del , CM000682.2:g.10644719_10644834del	GRCh38
NC_000020.10:g.10625367_10625482del , CM000682.1:g.10625367_10625482del	GRCh37
NC_000020.9:g.10573367_10573482del	NCBI36
NG_007496.1:g.34213_34328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+29_2344+144del MANE Select	ENSP00000254958.4:n.2344+29_2344+144del
ENST00000617965.2:n.2933+29_2933+144del
ENST00000254958.9:c.2344+29_2344+144del	ENSP00000254958.4:n.2344+29_2344+144del
ENST00000423891.6:n.2210+29_2210+144del
ENST00000488480.2:n.770_885del
NM_000214.2:c.2344+29_2344+144del	NP_000205.1:n.2344+29_2344+144del
NM_000214.3:c.2344+29_2344+144del MANE Select	NP_000205.1:n.2344+29_2344+144del