Canonical Allele Identifier: CA2658010820
Gene: MATN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005619_20005620insAT , CM000664.2:g.20005619_20005620insAT GRCh38
NC_000002.11:g.20205380_20205381insAT , CM000664.1:g.20205380_20205381insAT GRCh37
NC_000002.10:g.20068861_20068862insAT NCBI36
NG_008087.1:g.12075_12076insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+124_790+125insAT MANE Select ENSP00000383894.3:n.790+124_790+125insAT
ENST00000407540.7:c.790+124_790+125insAT ENSP00000383894.3:n.790+124_790+125insAT
ENST00000421259.2:c.790+124_790+125insAT ENSP00000398753.2:n.790+124_790+125insAT
NM_002381.4:c.790+124_790+125insAT NP_002372.1:n.790+124_790+125insAT
NM_002381.5:c.790+124_790+125insAT MANE Select NP_002372.1:n.790+124_790+125insAT