Canonical Allele Identifier: CA356967
Gene: ECM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222947
ClinVar RCV Id: RCV000208549 RCV003401118
dbSNP Id: rs869025565
gnomAD v2: 1-150483472-CT-C
gnomAD v3: 1-150510996-CT-C
gnomAD v4: 1-150510996-CT-C
MyVariant Identifiers: chr1:g.150483473del (hg19) chr1:g.150510997del (hg38)
PubMed: PMID:17199583 PMID:17927570 PMID:25529926 PMID:26803878
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150510997del , CM000663.2:g.150510997del GRCh38
NC_000001.10:g.150483473del , CM000663.1:g.150483473del GRCh37
NC_000001.9:g.148750097del NCBI36
NG_012062.1:g.7987del

Transcript Alleles

HGVS Amino-acid change
ENST00000369047.9:c.507del MANE Select ENSP00000358043.4:p.Arg171GlyfsTer7
ENST00000346569.6:c.507del ENSP00000271630.6:p.Arg171GlyfsTer7
ENST00000369047.8:c.507del ENSP00000358043.4:p.Arg171GlyfsTer7
ENST00000369049.8:c.588del ENSP00000358045.4:p.Arg198GlyfsTer7
ENST00000470432.5:n.1606del
ENST00000498579.5:n.794del
NM_001202858.1:c.588del NP_001189787.1:p.Arg198GlyfsTer7
NM_004425.3:c.507del NP_004416.2:p.Arg171GlyfsTer7
NM_022664.2:c.507del NP_073155.2:p.Arg171GlyfsTer7
NM_004425.4:c.507del MANE Select NP_004416.2:p.Arg171GlyfsTer7
NM_001202858.2:c.588del NP_001189787.1:p.Arg198GlyfsTer7
NM_022664.3:c.507del NP_073155.2:p.Arg171GlyfsTer7
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