Canonical Allele Identifier: CA356973
Gene: ECM1 HGNC NCBI
gnomAD v2:
1:150483466 T / TC
gnomAD v3:
1:150510990 T / TC
gnomAD v4:
chr1-150510990-T-TC
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar Allele:
224659
ClinVar RCV:
RCV000208556
RCV001268537
ClinVar Variation:
222945
dbSNP:
869025564
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'