Canonical Allele Identifier: CA2493007752

Gene: MATN3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005606_20005610delinsGCACA , CM000664.2:g.20005606_20005610delinsGCACA	GRCh38
NC_000002.11:g.20205367_20205371delinsGCACA , CM000664.1:g.20205367_20205371delinsGCACA	GRCh37
NC_000002.10:g.20068848_20068852delinsGCACA	NCBI36
NG_008087.1:g.12085_12089delinsTGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+134_790+138delinsTGTGC MANE Select	ENSP00000383894.3:n.790+134_790+138delinsTGTGC
ENST00000407540.7:c.790+134_790+138delinsTGTGC	ENSP00000383894.3:n.790+134_790+138delinsTGTGC
ENST00000421259.2:c.790+134_790+138delinsTGTGC	ENSP00000398753.2:n.790+134_790+138delinsTGTGC
NM_002381.4:c.790+134_790+138delinsTGTGC	NP_002372.1:n.790+134_790+138delinsTGTGC
NM_002381.5:c.790+134_790+138delinsTGTGC MANE Select	NP_002372.1:n.790+134_790+138delinsTGTGC