Canonical Allele Identifier: CA2576684674

Gene: MATN3

Linked Data

• gnomAD v4: 2-20005662-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005664_20005665dup , CM000664.2:g.20005664_20005665dup	GRCh38
NC_000002.11:g.20205425_20205426dup , CM000664.1:g.20205425_20205426dup	GRCh37
NC_000002.10:g.20068906_20068907dup	NCBI36
NG_008087.1:g.12031_12032dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+80_790+81dup MANE Select	ENSP00000383894.3:n.790+80_790+81dup
ENST00000407540.7:c.790+80_790+81dup	ENSP00000383894.3:n.790+80_790+81dup
ENST00000421259.2:c.790+80_790+81dup	ENSP00000398753.2:n.790+80_790+81dup
NM_002381.4:c.790+80_790+81dup	NP_002372.1:n.790+80_790+81dup
NM_002381.5:c.790+80_790+81dup MANE Select	NP_002372.1:n.790+80_790+81dup