Canonical Allele Identifier: CA2576684675
Gene: MATN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005662_20005663insG , CM000664.2:g.20005662_20005663insG GRCh38
NC_000002.11:g.20205423_20205424insG , CM000664.1:g.20205423_20205424insG GRCh37
NC_000002.10:g.20068904_20068905insG NCBI36
NG_008087.1:g.12032_12033insC

Transcript Alleles

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