Canonical Allele Identifier: CA2576684677
Gene: MATN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005663_20005664insACA , CM000664.2:g.20005663_20005664insACA GRCh38
NC_000002.11:g.20205424_20205425insACA , CM000664.1:g.20205424_20205425insACA GRCh37
NC_000002.10:g.20068905_20068906insACA NCBI36
NG_008087.1:g.12032_12033insGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+81_790+82insGTT MANE Select ENSP00000383894.3:n.790+81_790+82insGTT
ENST00000407540.7:c.790+81_790+82insGTT ENSP00000383894.3:n.790+81_790+82insGTT
ENST00000421259.2:c.790+81_790+82insGTT ENSP00000398753.2:n.790+81_790+82insGTT
NM_002381.4:c.790+81_790+82insGTT NP_002372.1:n.790+81_790+82insGTT
NM_002381.5:c.790+81_790+82insGTT MANE Select NP_002372.1:n.790+81_790+82insGTT