Canonical Allele Identifier: CA2580611595

Gene: MATN3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19999538_20008463dup , CM000664.2:g.19999538_20008463dup	GRCh38
NC_000002.11:g.20199299_20208224dup , CM000664.1:g.20199299_20208224dup	GRCh37
NC_000002.10:g.20062780_20071705dup	NCBI36
NG_008087.1:g.9232_18157dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.224-2153_1168+903dup
ENST00000407540.7:c.224-2153_1168+903dup
ENST00000421259.2:c.224-2153_1042+903dup
NM_002381.4:c.224-2153_1168+903dup
NM_002381.5:c.224-2153_1168+903dup