Canonical Allele Identifier: CA763243804
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs147178840
gnomAD v3: 2-20005606-GCACA-G
gnomAD v4: 2-20005606-GCACA-G
MyVariant Identifiers: chr2:g.20205368_20205371del (hg19) chr2:g.20005607_20005610del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005616_20005619del , CM000664.2:g.20005616_20005619del GRCh38
NC_000002.11:g.20205377_20205380del , CM000664.1:g.20205377_20205380del GRCh37
NC_000002.10:g.20068858_20068861del NCBI36
NG_008087.1:g.12085_12088del

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+134_790+137del MANE Select ENSP00000383894.3:n.790+134_790+137del
ENST00000407540.7:c.790+134_790+137del ENSP00000383894.3:n.790+134_790+137del
ENST00000421259.2:c.790+134_790+137del ENSP00000398753.2:n.790+134_790+137del
NM_002381.4:c.790+134_790+137del NP_002372.1:n.790+134_790+137del
NM_002381.5:c.790+134_790+137del MANE Select NP_002372.1:n.790+134_790+137del
Search 100 bp 5'
Search 100 bp 3'