Canonical Allele Identifier: CA2698806315
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1553327642

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005663_20005664insAAGT , CM000664.2:g.20005663_20005664insAAGT GRCh38
NC_000002.11:g.20205424_20205425insAAGT , CM000664.1:g.20205424_20205425insAAGT GRCh37
NC_000002.10:g.20068905_20068906insAAGT NCBI36
NG_008087.1:g.12031_12032insACTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+80_790+81insACTT MANE Select ENSP00000383894.3:n.790+80_790+81insACTT
ENST00000407540.7:c.790+80_790+81insACTT ENSP00000383894.3:n.790+80_790+81insACTT
ENST00000421259.2:c.790+80_790+81insACTT ENSP00000398753.2:n.790+80_790+81insACTT
NM_002381.4:c.790+80_790+81insACTT NP_002372.1:n.790+80_790+81insACTT
NM_002381.5:c.790+80_790+81insACTT MANE Select NP_002372.1:n.790+80_790+81insACTT