Canonical Allele Identifier: CA1015374828
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v3: 20-10645338-A-AAATTAGCTG
gnomAD v4: 20-10645338-A-AAATTAGCTG
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10645338_10645339insAATTAGCTG , CM000682.2:g.10645338_10645339insAATTAGCTG GRCh38
NC_000020.10:g.10625986_10625987insAATTAGCTG , CM000682.1:g.10625986_10625987insAATTAGCTG GRCh37
NC_000020.9:g.10573986_10573987insAATTAGCTG NCBI36
NG_007496.1:g.33708_33709insCAGCTAATT

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2113+17_2113+18insCAGCTAATT MANE Select ENSP00000254958.4:n.2113+17_2113+18insCAGCTAATT
ENST00000617965.2:n.2702+17_2702+18insCAGCTAATT
ENST00000254958.9:c.2113+17_2113+18insCAGCTAATT ENSP00000254958.4:n.2113+17_2113+18insCAGCTAATT
ENST00000423891.6:n.1979+17_1979+18insCAGCTAATT
ENST00000488480.2:n.510+17_510+18insCAGCTAATT
NM_000214.2:c.2113+17_2113+18insCAGCTAATT NP_000205.1:n.2113+17_2113+18insCAGCTAATT
NM_000214.3:c.2113+17_2113+18insCAGCTAATT MANE Select NP_000205.1:n.2113+17_2113+18insCAGCTAATT
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