Linked Data
ClinVar Variation Id:
349258
ClinVar RCV Id:
RCV000396615
dbSNP Id:
rs397690241
gnomAD v2:
4-5814607-CT-C
gnomAD v3:
4-5812880-CT-C
gnomAD v4:
4-5812880-CT-C
MyVariant Identifiers:
chr4:g.5814609del (hg19)
chr4:g.5814608del (hg19)
chr4:g.5812882del (hg38)
chr4:g.5812881del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5812882del , CM000666.2:g.5812882del | GRCh38 |
| NC_000004.11:g.5814609del , CM000666.1:g.5814609del | GRCh37 |
| NC_000004.10:g.5865510del | NCBI36 |
| NG_008843.1:g.106686del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264956.11:c.*1845del (EVC) MANE Select | ENSP00000264956.6:n.*1845del | |
| ENST00000264956.10:c.*1845del (EVC) | ENSP00000264956.6:n.*1845del | |
| ENST00000506216.5:n.1647+12613del (CRMP1) | ||
| NM_001306090.1:c.*1845del (EVC) | NP_001293019.1:n.*1845del | |
| NM_153717.2:c.*1845del (EVC) | NP_714928.1:n.*1845del | |
| XR_427473.2:n.5014del (EVC) | ||
| XR_427475.2:n.5014del (EVC) | ||
| XR_427476.2:n.5014del (EVC) | ||
| XR_924920.1:n.5014del (EVC) | ||
| XR_924921.1:n.5014del (EVC) | ||
| XR_924922.1:n.5014del (EVC) | ||
| XR_924923.1:n.5014del (EVC) | ||
| XR_924924.1:n.5014del (EVC) | ||
| XR_924925.1:n.5014del (EVC) | ||
| XR_924926.1:n.5014del (EVC) | ||
| XR_924927.1:n.5011del (EVC) | ||
| XR_001741164.1:n.5004del (EVC) | ||
| XR_001741165.1:n.5004del (EVC) | ||
| XR_001741166.1:n.5004del (EVC) | ||
| XR_001741167.1:n.5004del (EVC) | ||
| XR_001741168.1:n.5001del (EVC) | ||
| XR_001741169.2:n.4868del (EVC) | ||
| XR_001741171.1:n.4309del (EVC) | ||
| XR_427473.3:n.5004del (EVC) | ||
| XR_427475.3:n.5004del (EVC) | ||
| XR_427476.3:n.5004del (EVC) | ||
| XR_924920.2:n.5004del (EVC) | ||
| XR_924921.2:n.5004del (EVC) | ||
| XR_924922.2:n.5004del (EVC) | ||
| XR_924924.2:n.5004del (EVC) | ||
| XR_924925.2:n.5004del (EVC) | ||
| XR_924926.2:n.5004del (EVC) | ||
| NM_153717.3:c.*1845del (EVC) MANE Select | NP_714928.1:n.*1845del | |
| NM_001306090.2:c.*1845del (EVC) | NP_001293019.1:n.*1845del |