Canonical Allele Identifier: CA1344965532
Gene: JAGN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890790_9890797delinsTCGCCATG , CM000665.2:g.9890790_9890797delinsTCGCCATG GRCh38
NC_000003.11:g.9932474_9932481delinsTCGCCATG , CM000665.1:g.9932474_9932481delinsTCGCCATG GRCh37
NC_000003.10:g.9907474_9907481delinsTCGCCATG NCBI36
NG_041779.1:g.5204_5211delinsTCGCCATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.68_75delinsTCGCCATG ENSP00000497724.1:p.Val23=
ENST00000647897.1:c.68_75delinsTCGCCATG MANE Select ENSP00000496942.1:p.Val23=
ENST00000307768.4:c.68_75delinsTCGCCATG ENSP00000306106.4:p.Val23=
ENST00000489724.1:n.158_165delinsTCGCCATG
ENST00000616966.2:c.68_75delinsTCGCCATG ENSP00000481606.1:p.Val23=
NM_032492.3:c.68_75delinsTCGCCATG NP_115881.3:p.Val23=
NM_001363890.1:c.-201_-194delinsTCGCCATG NP_001350819.1:n.-201_-194delinsTCGCCATG
NM_032492.4:c.68_75delinsTCGCCATG MANE Select NP_115881.3:p.Val23=