Canonical Allele Identifier: CA1028161341

Gene: MATN3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005663_20005664insAAAGA , CM000664.2:g.20005663_20005664insAAAGA	GRCh38
NC_000002.11:g.20205424_20205425insAAAGA , CM000664.1:g.20205424_20205425insAAAGA	GRCh37
NC_000002.10:g.20068905_20068906insAAAGA	NCBI36
NG_008087.1:g.12032_12033insCTTTT

Transcript Alleles

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