Canonical Allele Identifier: CA43403371
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs869208593
MyVariant Identifiers: chr2:g.20205425_20205426insAAGA (hg19) chr2:g.20005664_20005665insAAGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005666_20005667insGAAA , CM000664.2:g.20005666_20005667insGAAA GRCh38
NC_000002.11:g.20205427_20205428insGAAA , CM000664.1:g.20205427_20205428insGAAA GRCh37
NC_000002.10:g.20068908_20068909insGAAA NCBI36
NG_008087.1:g.12030_12031insTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+79_790+80insTCTT MANE Select ENSP00000383894.3:n.790+79_790+80insTCTT
ENST00000407540.7:c.790+79_790+80insTCTT ENSP00000383894.3:n.790+79_790+80insTCTT
ENST00000421259.2:c.790+79_790+80insTCTT ENSP00000398753.2:n.790+79_790+80insTCTT
NM_002381.4:c.790+79_790+80insTCTT NP_002372.1:n.790+79_790+80insTCTT
NM_002381.5:c.790+79_790+80insTCTT MANE Select NP_002372.1:n.790+79_790+80insTCTT
Search 100 bp 5'
Search 100 bp 3'