Canonical Allele Identifier: CA1028161339
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v3: 2-20005662-A-AAAAAAAAAG
gnomAD v4: 2-20005662-A-AAAAAAAAAG
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005663_20005664insAAAAAAAGA , CM000664.2:g.20005663_20005664insAAAAAAAGA GRCh38
NC_000002.11:g.20205424_20205425insAAAAAAAGA , CM000664.1:g.20205424_20205425insAAAAAAAGA GRCh37
NC_000002.10:g.20068905_20068906insAAAAAAAGA NCBI36
NG_008087.1:g.12032_12033insCTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+81_790+82insCTTTTTTTT MANE Select ENSP00000383894.3:n.790+81_790+82insCTTTTTTTT
ENST00000407540.7:c.790+81_790+82insCTTTTTTTT ENSP00000383894.3:n.790+81_790+82insCTTTTTTTT
ENST00000421259.2:c.790+81_790+82insCTTTTTTTT ENSP00000398753.2:n.790+81_790+82insCTTTTTTTT
NM_002381.4:c.790+81_790+82insCTTTTTTTT NP_002372.1:n.790+81_790+82insCTTTTTTTT
NM_002381.5:c.790+81_790+82insCTTTTTTTT MANE Select NP_002372.1:n.790+81_790+82insCTTTTTTTT
Search 100 bp 5'
Search 100 bp 3'