Canonical Allele Identifier: CA530853123
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1336268449
gnomAD v2: 2-20205344-CACACACGCGCGCAT-C
gnomAD v3: 2-20005583-CACACACGCGCGCAT-C
gnomAD v4: 2-20005583-CACACACGCGCGCAT-C
MyVariant Identifiers: chr2:g.20205345_20205358del (hg19) chr2:g.20005584_20005597del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005584_20005597del , CM000664.2:g.20005584_20005597del GRCh38
NC_000002.11:g.20205345_20205358del , CM000664.1:g.20205345_20205358del GRCh37
NC_000002.10:g.20068826_20068839del NCBI36
NG_008087.1:g.12098_12111del

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+147_790+160del MANE Select ENSP00000383894.3:n.790+147_790+160del
ENST00000407540.7:c.790+147_790+160del ENSP00000383894.3:n.790+147_790+160del
ENST00000421259.2:c.790+147_790+160del ENSP00000398753.2:n.790+147_790+160del
NM_002381.4:c.790+147_790+160del NP_002372.1:n.790+147_790+160del
NM_002381.5:c.790+147_790+160del MANE Select NP_002372.1:n.790+147_790+160del
Search 100 bp 5'
Search 100 bp 3'