Canonical Allele Identifier: CA356967

Gene: ECM1

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

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