Canonical Allele Identifier: CA2493007730
Gene: MATN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005582_20005584delinsGCA , CM000664.2:g.20005582_20005584delinsGCA GRCh38
NC_000002.11:g.20205343_20205345delinsGCA , CM000664.1:g.20205343_20205345delinsGCA GRCh37
NC_000002.10:g.20068824_20068826delinsGCA NCBI36
NG_008087.1:g.12111_12113delinsTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+160_790+162delinsTGC MANE Select ENSP00000383894.3:n.790+160_790+162delinsTGC
ENST00000407540.7:c.790+160_790+162delinsTGC ENSP00000383894.3:n.790+160_790+162delinsTGC
ENST00000421259.2:c.790+160_790+162delinsTGC ENSP00000398753.2:n.790+160_790+162delinsTGC
NM_002381.4:c.790+160_790+162delinsTGC NP_002372.1:n.790+160_790+162delinsTGC
NM_002381.5:c.790+160_790+162delinsTGC MANE Select NP_002372.1:n.790+160_790+162delinsTGC