Canonical Allele Identifier: CA763243827

Gene: MATN3

Linked Data

• dbSNP Id: rs1463427776
• MyVariant Identifiers: chr2:g.20205419_20205420insAAAG (hg19) ; chr2:g.20005658_20005659insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005661_20005662insGAAA , CM000664.2:g.20005661_20005662insGAAA	GRCh38
NC_000002.11:g.20205422_20205423insGAAA , CM000664.1:g.20205422_20205423insGAAA	GRCh37
NC_000002.10:g.20068903_20068904insGAAA	NCBI36
NG_008087.1:g.12036_12037insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+85_790+86insCTTT MANE Select	ENSP00000383894.3:n.790+85_790+86insCTTT
ENST00000407540.7:c.790+85_790+86insCTTT	ENSP00000383894.3:n.790+85_790+86insCTTT
ENST00000421259.2:c.790+85_790+86insCTTT	ENSP00000398753.2:n.790+85_790+86insCTTT
NM_002381.4:c.790+85_790+86insCTTT	NP_002372.1:n.790+85_790+86insCTTT
NM_002381.5:c.790+85_790+86insCTTT MANE Select	NP_002372.1:n.790+85_790+86insCTTT