Canonical Allele Identifier: CA356973
Gene: ECM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222945
ClinVar RCV Id: RCV000208556 RCV001268537
dbSNP Id: rs869025564
ExAC: 1:150483466 T / TC
gnomAD v2: 1-150483466-T-TC
gnomAD v3: 1-150510990-T-TC
gnomAD v4: 1-150510990-T-TC
MyVariant Identifiers: chr1:g.150483472dupC (hg19) chr1:g.150483466_150483467insC (hg19) chr1:g.150510996dupC (hg38) chr1:g.150510990_150510991insC (hg38)
PubMed: PMID:12472532 PMID:16172042 PMID:26803878
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150510996dup , CM000663.2:g.150510996dup GRCh38
NC_000001.10:g.150483472dup , CM000663.1:g.150483472dup GRCh37
NC_000001.9:g.148750096dup NCBI36
NG_012062.1:g.7986dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369047.9:c.506dup MANE Select ENSP00000358043.4:p.Gly170TrpfsTer15
ENST00000346569.6:c.506dup ENSP00000271630.6:p.Gly170TrpfsTer15
ENST00000369047.8:c.506dup ENSP00000358043.4:p.Gly170TrpfsTer15
ENST00000369049.8:c.587dup ENSP00000358045.4:p.Gly197TrpfsTer15
ENST00000470432.5:n.1605dup
ENST00000498579.5:n.793dup
NM_001202858.1:c.587dup NP_001189787.1:p.Gly197TrpfsTer15
NM_004425.3:c.506dup NP_004416.2:p.Gly170TrpfsTer15
NM_022664.2:c.506dup NP_073155.2:p.Gly170TrpfsTer15
NM_004425.4:c.506dup MANE Select NP_004416.2:p.Gly170TrpfsTer15
NM_001202858.2:c.587dup NP_001189787.1:p.Gly197TrpfsTer15
NM_022664.3:c.506dup NP_073155.2:p.Gly170TrpfsTer15
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