Canonical Allele Identifier: CA741106160

Gene: JAG1

Linked Data

• dbSNP Id: rs1388131266
• gnomAD v3: 20-10644656-CTG-C
• gnomAD v4: 20-10644656-CTG-C
• MyVariant Identifiers: chr20:g.10625305_10625306del (hg19) ; chr20:g.10644657_10644658del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644657_10644658del , CM000682.2:g.10644657_10644658del	GRCh38
NC_000020.10:g.10625305_10625306del , CM000682.1:g.10625305_10625306del	GRCh37
NC_000020.9:g.10573305_10573306del	NCBI36
NG_007496.1:g.34389_34390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+205_2344+206del MANE Select	ENSP00000254958.4:n.2344+205_2344+206del
ENST00000617965.2:n.2933+205_2933+206del
ENST00000254958.9:c.2344+205_2344+206del	ENSP00000254958.4:n.2344+205_2344+206del
ENST00000423891.6:n.2210+205_2210+206del
ENST00000488480.2:n.946_947del
NM_000214.2:c.2344+205_2344+206del	NP_000205.1:n.2344+205_2344+206del
NM_000214.3:c.2344+205_2344+206del MANE Select	NP_000205.1:n.2344+205_2344+206del