Canonical Allele Identifier: CA2658010874
Gene: MATN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005665_20005666insTA , CM000664.2:g.20005665_20005666insTA GRCh38
NC_000002.11:g.20205426_20205427insTA , CM000664.1:g.20205426_20205427insTA GRCh37
NC_000002.10:g.20068907_20068908insTA NCBI36
NG_008087.1:g.12030_12031insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+79_790+80insAT MANE Select ENSP00000383894.3:n.790+79_790+80insAT
ENST00000407540.7:c.790+79_790+80insAT ENSP00000383894.3:n.790+79_790+80insAT
ENST00000421259.2:c.790+79_790+80insAT ENSP00000398753.2:n.790+79_790+80insAT
NM_002381.4:c.790+79_790+80insAT NP_002372.1:n.790+79_790+80insAT
NM_002381.5:c.790+79_790+80insAT MANE Select NP_002372.1:n.790+79_790+80insAT