Canonical Allele Identifier: CA1028161328
Gene: MATN3 HGNC NCBI

Linked Data

gnomAD v3: 2-20005649-ATTTCCACC-A
gnomAD v4: 2-20005649-ATTTCCACC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005650_20005657del , CM000664.2:g.20005650_20005657del GRCh38
NC_000002.11:g.20205411_20205418del , CM000664.1:g.20205411_20205418del GRCh37
NC_000002.10:g.20068892_20068899del NCBI36
NG_008087.1:g.12038_12045del

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+87_790+94del MANE Select ENSP00000383894.3:n.790+87_790+94del
ENST00000407540.7:c.790+87_790+94del ENSP00000383894.3:n.790+87_790+94del
ENST00000421259.2:c.790+87_790+94del ENSP00000398753.2:n.790+87_790+94del
NM_002381.4:c.790+87_790+94del NP_002372.1:n.790+87_790+94del
NM_002381.5:c.790+87_790+94del MANE Select NP_002372.1:n.790+87_790+94del
Search 100 bp 5'
Search 100 bp 3'