Canonical Allele Identifier: CA1028161338
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v3: 2-20005657-C-CAAAAAAAA
gnomAD v4: 2-20005657-C-CAAAAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005663_20005664insAAAAAAAA , CM000664.2:g.20005663_20005664insAAAAAAAA GRCh38
NC_000002.11:g.20205424_20205425insAAAAAAAA , CM000664.1:g.20205424_20205425insAAAAAAAA GRCh37
NC_000002.10:g.20068905_20068906insAAAAAAAA NCBI36
NG_008087.1:g.12037_12038insTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+86_790+87insTTTTTTTT MANE Select ENSP00000383894.3:n.790+86_790+87insTTTTTTTT
ENST00000407540.7:c.790+86_790+87insTTTTTTTT ENSP00000383894.3:n.790+86_790+87insTTTTTTTT
ENST00000421259.2:c.790+86_790+87insTTTTTTTT ENSP00000398753.2:n.790+86_790+87insTTTTTTTT
NM_002381.4:c.790+86_790+87insTTTTTTTT NP_002372.1:n.790+86_790+87insTTTTTTTT
NM_002381.5:c.790+86_790+87insTTTTTTTT MANE Select NP_002372.1:n.790+86_790+87insTTTTTTTT
Search 100 bp 5'
Search 100 bp 3'