Canonical Allele Identifier: CA2493007760

Gene: MATN3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005631_20005637delinsATTTAAG , CM000664.2:g.20005631_20005637delinsATTTAAG	GRCh38
NC_000002.11:g.20205392_20205398delinsATTTAAG , CM000664.1:g.20205392_20205398delinsATTTAAG	GRCh37
NC_000002.10:g.20068873_20068879delinsATTTAAG	NCBI36
NG_008087.1:g.12058_12064delinsCTTAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+107_790+113delinsCTTAAAT MANE Select	ENSP00000383894.3:n.790+107_790+113delinsCTTAAAT
ENST00000407540.7:c.790+107_790+113delinsCTTAAAT	ENSP00000383894.3:n.790+107_790+113delinsCTTAAAT
ENST00000421259.2:c.790+107_790+113delinsCTTAAAT	ENSP00000398753.2:n.790+107_790+113delinsCTTAAAT
NM_002381.4:c.790+107_790+113delinsCTTAAAT	NP_002372.1:n.790+107_790+113delinsCTTAAAT
NM_002381.5:c.790+107_790+113delinsCTTAAAT MANE Select	NP_002372.1:n.790+107_790+113delinsCTTAAAT