Canonical Allele Identifier: CA2493004807
Gene: MATN3 HGNC NCBI
WDR35-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19998222_19998223delinsGA , CM000664.2:g.19998222_19998223delinsGA GRCh38
NC_000002.11:g.20197983_20197984delinsGA , CM000664.1:g.20197983_20197984delinsGA GRCh37
NC_000002.10:g.20061464_20061465delinsGA NCBI36
NG_008087.1:g.19472_19473delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000407540.8:c.1169-964_1169-963delinsTC (MATN3) MANE Select ENSP00000383894.3:n.1169-964_1169-963delinsTC
ENST00000407540.7:c.1169-964_1169-963delinsTC (MATN3) ENSP00000383894.3:n.1169-964_1169-963delinsTC
ENST00000421259.2:c.1043-964_1043-963delinsTC (MATN3) ENSP00000398753.2:n.1043-964_1043-963delinsTC
NM_002381.4:c.1169-964_1169-963delinsTC (MATN3) NP_002372.1:n.1169-964_1169-963delinsTC
NR_110235.1:n.292-984_292-983delinsGA (WDR35-DT)
NM_002381.5:c.1169-964_1169-963delinsTC (MATN3) MANE Select NP_002372.1:n.1169-964_1169-963delinsTC