Canonical Allele Identifier: CA634801877
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1568794248
gnomAD v2: 20-10625991-AAC-A
gnomAD v4: 20-10645343-AAC-A
MyVariant Identifiers: chr20:g.10625992_10625993del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10645344_10645345del , CM000682.2:g.10645344_10645345del GRCh38
NC_000020.10:g.10625992_10625993del , CM000682.1:g.10625992_10625993del GRCh37
NC_000020.9:g.10573992_10573993del NCBI36
NG_007496.1:g.33702_33703del

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2113+11_2113+12del MANE Select ENSP00000254958.4:n.2113+11_2113+12del
ENST00000617965.2:n.2702+11_2702+12del
ENST00000254958.9:c.2113+11_2113+12del ENSP00000254958.4:n.2113+11_2113+12del
ENST00000423891.6:n.1979+11_1979+12del
ENST00000488480.2:n.510+11_510+12del
NM_000214.2:c.2113+11_2113+12del NP_000205.1:n.2113+11_2113+12del
NM_000214.3:c.2113+11_2113+12del MANE Select NP_000205.1:n.2113+11_2113+12del
Search 100 bp 5'
Search 100 bp 3'