Canonical Allele Identifier: CA2493007770
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1673084416

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005659_20005660insGAAA , CM000664.2:g.20005659_20005660insGAAA GRCh38
NC_000002.11:g.20205420_20205421insGAAA , CM000664.1:g.20205420_20205421insGAAA GRCh37
NC_000002.10:g.20068901_20068902insGAAA NCBI36
NG_008087.1:g.12037_12038insTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+86_790+87insTCTT MANE Select ENSP00000383894.3:n.790+86_790+87insTCTT
ENST00000407540.7:c.790+86_790+87insTCTT ENSP00000383894.3:n.790+86_790+87insTCTT
ENST00000421259.2:c.790+86_790+87insTCTT ENSP00000398753.2:n.790+86_790+87insTCTT
NM_002381.4:c.790+86_790+87insTCTT NP_002372.1:n.790+86_790+87insTCTT
NM_002381.5:c.790+86_790+87insTCTT MANE Select NP_002372.1:n.790+86_790+87insTCTT