Canonical Allele Identifier: CA10631217
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305389
ClinVar RCV Id: RCV000311766
dbSNP Id: rs886048508
gnomAD v4: 11-65872804-C-CCCCG
MyVariant Identifiers: chr11:g.65640276_65640279dupCCCG (hg19) chr11:g.65640275_65640276insCCCG (hg19) chr11:g.65872805_65872808dupCCCG (hg38) chr11:g.65872804_65872805insCCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65872815_65872818dup , CM000673.2:g.65872815_65872818dup GRCh38
NC_000011.9:g.65640286_65640289dup , CM000673.1:g.65640286_65640289dup GRCh37
NC_000011.8:g.65396862_65396865dup NCBI36
NG_012304.2:g.5127_5130dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.10:c.-133_-130dup ENSP00000309953.6:n.-133_-130dup
ENST00000527378.1:c.-7-447_-7-444dup ENSP00000435963.1:n.-7-447_-7-444dup
ENST00000533347.5:c.-133_-130dup ENSP00000435823.1:n.-133_-130dup
NM_016938.4:c.-133_-130dup NP_058634.4:n.-133_-130dup
NR_037718.1:n.127_130dup
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