Canonical Allele Identifier: CA916486919

Gene: MATN3

Linked Data

• dbSNP Id: rs3832086
• gnomAD v3: 2-20005662-A-AAAG
• gnomAD v4: 2-20005662-A-AAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005663_20005664insAGA , CM000664.2:g.20005663_20005664insAGA	GRCh38
NC_000002.11:g.20205424_20205425insAGA , CM000664.1:g.20205424_20205425insAGA	GRCh37
NC_000002.10:g.20068905_20068906insAGA	NCBI36
NG_008087.1:g.12032_12033insCTT

Transcript Alleles

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