Canonical Allele Identifier: CA2577502138
Gene: JAGN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890868_9890869insGGC , CM000665.2:g.9890868_9890869insGGC GRCh38
NC_000003.11:g.9932552_9932553insGGC , CM000665.1:g.9932552_9932553insGGC GRCh37
NC_000003.10:g.9907552_9907553insGGC NCBI36
NG_041779.1:g.5282_5283insGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89+57_89+58insGGC ENSP00000497724.1:n.89+57_89+58insGGC
ENST00000647897.1:c.89+57_89+58insGGC MANE Select ENSP00000496942.1:n.89+57_89+58insGGC
ENST00000307768.4:c.89+57_89+58insGGC ENSP00000306106.4:n.89+57_89+58insGGC
ENST00000489724.1:n.179+57_179+58insGGC
ENST00000616966.2:c.89+57_89+58insGGC ENSP00000481606.1:n.89+57_89+58insGGC
NM_032492.3:c.89+57_89+58insGGC NP_115881.3:n.89+57_89+58insGGC
NM_001363890.1:c.-180+57_-180+58insGGC NP_001350819.1:n.-180+57_-180+58insGGC
NM_032492.4:c.89+57_89+58insGGC MANE Select NP_115881.3:n.89+57_89+58insGGC
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