Canonical Allele Identifier: CA43398425
Gene: MATN3 HGNC NCBI
WDR35-DT HGNC NCBI

Linked Data

dbSNP Id: rs148503762
gnomAD v2: 2-20197984-AT-A
gnomAD v3: 2-19998223-AT-A
gnomAD v4: 2-19998223-AT-A
MyVariant Identifiers: chr2:g.20197985del (hg19) chr2:g.19998224del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.19998232del , CM000664.2:g.19998232del GRCh38
NC_000002.11:g.20197993del , CM000664.1:g.20197993del GRCh37
NC_000002.10:g.20061474del NCBI36
NG_008087.1:g.19471del

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.1169-965del (MATN3) MANE Select ENSP00000383894.3:n.1169-965del
ENST00000407540.7:c.1169-965del (MATN3) ENSP00000383894.3:n.1169-965del
ENST00000421259.2:c.1043-965del (MATN3) ENSP00000398753.2:n.1043-965del
NM_002381.4:c.1169-965del (MATN3) NP_002372.1:n.1169-965del
NR_110235.1:n.292-974del (WDR35-DT)
NM_002381.5:c.1169-965del (MATN3) MANE Select NP_002372.1:n.1169-965del
Search 100 bp 5'
Search 100 bp 3'