Canonical Allele Identifier: CA634452158

Gene: JAG1

Linked Data

• dbSNP Id: rs1309469929
• gnomAD v2: 20-10625358-CAGGGCTGTATCCCATCAAGT-C
• gnomAD v3: 20-10644710-CAGGGCTGTATCCCATCAAGT-C
• gnomAD v4: 20-10644710-CAGGGCTGTATCCCATCAAGT-C
• MyVariant Identifiers: chr20:g.10625359_10625378del (hg19) ; chr20:g.10644711_10644730del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644711_10644730del , CM000682.2:g.10644711_10644730del	GRCh38
NC_000020.10:g.10625359_10625378del , CM000682.1:g.10625359_10625378del	GRCh37
NC_000020.9:g.10573359_10573378del	NCBI36
NG_007496.1:g.34317_34336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+133_2344+152del MANE Select	ENSP00000254958.4:n.2344+133_2344+152del
ENST00000617965.2:n.2933+133_2933+152del
ENST00000254958.9:c.2344+133_2344+152del	ENSP00000254958.4:n.2344+133_2344+152del
ENST00000423891.6:n.2210+133_2210+152del
ENST00000488480.2:n.874_893del
NM_000214.2:c.2344+133_2344+152del	NP_000205.1:n.2344+133_2344+152del
NM_000214.3:c.2344+133_2344+152del MANE Select	NP_000205.1:n.2344+133_2344+152del