Linked Data
ClinVar Variation Id:
516540
dbSNP Id:
rs377541465
ExAC:
4:5693074 TAA / T
gnomAD v2:
4-5693074-TAA-T
gnomAD v3:
4-5691347-TAA-T
gnomAD v4:
4-5691347-TAA-T
MyVariant Identifiers:
chr4:g.5693075_5693076del (hg19)
chr4:g.5691349_5691350del (hg38)
chr4:g.5691348_5691349del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5691350_5691351del , CM000666.2:g.5691350_5691351del | GRCh38 |
| NC_000004.11:g.5693077_5693078del , CM000666.1:g.5693077_5693078del | GRCh37 |
| NC_000004.10:g.5743978_5743979del | NCBI36 |
| NG_015821.1:g.23200_23201del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.451-16_451-15del MANE Select | ENSP00000342144.5:n.451-16_451-15del | |
| ENST00000310917.6:c.211-16_211-15del | ENSP00000311683.2:n.211-16_211-15del | |
| ENST00000344408.9:c.451-16_451-15del | ENSP00000342144.5:n.451-16_451-15del | |
| ENST00000475313.5:c.211-16_211-15del | ENSP00000431981.1:n.211-16_211-15del | |
| ENST00000509670.1:c.211-16_211-15del | ENSP00000423876.1:n.211-16_211-15del | |
| NM_001166136.1:c.211-16_211-15del | NP_001159608.1:n.211-16_211-15del | |
| NM_147127.4:c.451-16_451-15del | NP_667338.3:n.451-16_451-15del | |
| XM_011513392.1:c.451-16_451-15del | XP_011511694.1:n.451-16_451-15del | |
| XM_011513393.1:c.451-16_451-15del | XP_011511695.1:n.451-16_451-15del | |
| XM_011513394.1:c.211-16_211-15del | XP_011511696.1:n.211-16_211-15del | |
| XM_017007736.1:c.211-16_211-15del | XP_016863225.1:n.211-16_211-15del | |
| XM_017007737.1:c.211-16_211-15del | XP_016863226.1:n.211-16_211-15del | |
| XM_017007738.1:c.451-16_451-15del | XP_016863227.1:n.451-16_451-15del | |
| XM_017007739.1:c.-1222-16_-1222-15del | XP_016863228.1:n.-1222-16_-1222-15del | |
| XM_024453893.1:c.-1326-16_-1326-15del | XP_024309661.1:n.-1326-16_-1326-15del | |
| XR_001741141.1:n.516-16_516-15del | ||
| NM_147127.5:c.451-16_451-15del MANE Select | NP_667338.3:n.451-16_451-15del | |
| NM_001166136.2:c.211-16_211-15del | NP_001159608.1:n.211-16_211-15del |