Canonical Allele Identifier: CA2658010870

Gene: MATN3

Linked Data

• gnomAD v4: 2-20005662-A-AAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005665_20005666insGAGA , CM000664.2:g.20005665_20005666insGAGA	GRCh38
NC_000002.11:g.20205426_20205427insGAGA , CM000664.1:g.20205426_20205427insGAGA	GRCh37
NC_000002.10:g.20068907_20068908insGAGA	NCBI36
NG_008087.1:g.12032_12033insCTCT

Transcript Alleles

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