Canonical Allele Identifier: CA2658010907

Gene: MATN3

Linked Data

• gnomAD v4: 2-20005693-T-TATAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005693_20005694insATAAC , CM000664.2:g.20005693_20005694insATAAC	GRCh38
NC_000002.11:g.20205454_20205455insATAAC , CM000664.1:g.20205454_20205455insATAAC	GRCh37
NC_000002.10:g.20068935_20068936insATAAC	NCBI36
NG_008087.1:g.12001_12002insGTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+50_790+51insGTTAT MANE Select	ENSP00000383894.3:n.790+50_790+51insGTTAT
ENST00000407540.7:c.790+50_790+51insGTTAT	ENSP00000383894.3:n.790+50_790+51insGTTAT
ENST00000421259.2:c.790+50_790+51insGTTAT	ENSP00000398753.2:n.790+50_790+51insGTTAT
NM_002381.4:c.790+50_790+51insGTTAT	NP_002372.1:n.790+50_790+51insGTTAT
NM_002381.5:c.790+50_790+51insGTTAT MANE Select	NP_002372.1:n.790+50_790+51insGTTAT