Canonical Allele Identifier: CA2658010869

Gene: MATN3

Linked Data

• gnomAD v4: 2-20005660-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005660_20005661insC , CM000664.2:g.20005660_20005661insC	GRCh38
NC_000002.11:g.20205421_20205422insC , CM000664.1:g.20205421_20205422insC	GRCh37
NC_000002.10:g.20068902_20068903insC	NCBI36
NG_008087.1:g.12034_12035insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+83_790+84insG MANE Select	ENSP00000383894.3:n.790+83_790+84insG
ENST00000407540.7:c.790+83_790+84insG	ENSP00000383894.3:n.790+83_790+84insG
ENST00000421259.2:c.790+83_790+84insG	ENSP00000398753.2:n.790+83_790+84insG
NM_002381.4:c.790+83_790+84insG	NP_002372.1:n.790+83_790+84insG
NM_002381.5:c.790+83_790+84insG MANE Select	NP_002372.1:n.790+83_790+84insG