Canonical Allele Identifier: CA2493007771
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1673084489

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005660_20005661insGAAA , CM000664.2:g.20005660_20005661insGAAA GRCh38
NC_000002.11:g.20205421_20205422insGAAA , CM000664.1:g.20205421_20205422insGAAA GRCh37
NC_000002.10:g.20068902_20068903insGAAA NCBI36
NG_008087.1:g.12037_12038insCTTT

Transcript Alleles

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