Canonical Allele Identifier: CA2493007826
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs1673088638
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005780_20005781del , CM000664.2:g.20005780_20005781del GRCh38
NC_000002.11:g.20205541_20205542del , CM000664.1:g.20205541_20205542del GRCh37
NC_000002.10:g.20069022_20069023del NCBI36
NG_008087.1:g.11914_11915del

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.753_754del MANE Select ENSP00000383894.3:p.Lys253ThrfsTer4
ENST00000407540.7:c.753_754del ENSP00000383894.3:p.Lys253ThrfsTer4
ENST00000421259.2:c.753_754del ENSP00000398753.2:p.Lys253ThrfsTer4
NM_002381.4:c.753_754del NP_002372.1:p.Lys253ThrfsTer4
NM_002381.5:c.753_754del MANE Select NP_002372.1:p.Lys253ThrfsTer4
Search 100 bp 5'
Search 100 bp 3'