Canonical Allele Identifier: CA2493004806
Gene: MATN3 HGNC NCBI
WDR35-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19998221_19998222delinsAG , CM000664.2:g.19998221_19998222delinsAG GRCh38
NC_000002.11:g.20197982_20197983delinsAG , CM000664.1:g.20197982_20197983delinsAG GRCh37
NC_000002.10:g.20061463_20061464delinsAG NCBI36
NG_008087.1:g.19473_19474delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000407540.8:c.1169-963_1169-962delinsCT (MATN3) MANE Select ENSP00000383894.3:n.1169-963_1169-962delinsCT
ENST00000407540.7:c.1169-963_1169-962delinsCT (MATN3) ENSP00000383894.3:n.1169-963_1169-962delinsCT
ENST00000421259.2:c.1043-963_1043-962delinsCT (MATN3) ENSP00000398753.2:n.1043-963_1043-962delinsCT
NM_002381.4:c.1169-963_1169-962delinsCT (MATN3) NP_002372.1:n.1169-963_1169-962delinsCT
NR_110235.1:n.292-985_292-984delinsAG (WDR35-DT)
NM_002381.5:c.1169-963_1169-962delinsCT (MATN3) MANE Select NP_002372.1:n.1169-963_1169-962delinsCT