Canonical Allele Identifier: CA2493007761
Gene: MATN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005633_20005637delinsTTAAG , CM000664.2:g.20005633_20005637delinsTTAAG GRCh38
NC_000002.11:g.20205394_20205398delinsTTAAG , CM000664.1:g.20205394_20205398delinsTTAAG GRCh37
NC_000002.10:g.20068875_20068879delinsTTAAG NCBI36
NG_008087.1:g.12058_12062delinsCTTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+107_790+111delinsCTTAA MANE Select ENSP00000383894.3:n.790+107_790+111delinsCTTAA
ENST00000407540.7:c.790+107_790+111delinsCTTAA ENSP00000383894.3:n.790+107_790+111delinsCTTAA
ENST00000421259.2:c.790+107_790+111delinsCTTAA ENSP00000398753.2:n.790+107_790+111delinsCTTAA
NM_002381.4:c.790+107_790+111delinsCTTAA NP_002372.1:n.790+107_790+111delinsCTTAA
NM_002381.5:c.790+107_790+111delinsCTTAA MANE Select NP_002372.1:n.790+107_790+111delinsCTTAA