Canonical Allele Identifier: CA1044981508
Gene: JAGN1 HGNC NCBI

Linked Data

dbSNP Id: rs2082557507
gnomAD v3: 3-9890819-G-GT
gnomAD v4: 3-9890819-G-GT

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890820dup , CM000665.2:g.9890820dup GRCh38
NC_000003.11:g.9932504dup , CM000665.1:g.9932504dup GRCh37
NC_000003.10:g.9907504dup NCBI36
NG_041779.1:g.5234dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89+9dup ENSP00000497724.1:n.89+9dup
ENST00000647897.1:c.89+9dup MANE Select ENSP00000496942.1:n.89+9dup
ENST00000307768.4:c.89+9dup ENSP00000306106.4:n.89+9dup
ENST00000489724.1:n.179+9dup
ENST00000616966.2:c.89+9dup ENSP00000481606.1:n.89+9dup
NM_032492.3:c.89+9dup NP_115881.3:n.89+9dup
NM_001363890.1:c.-180+9dup NP_001350819.1:n.-180+9dup
NM_032492.4:c.89+9dup MANE Select NP_115881.3:n.89+9dup