Linked Data
ClinVar Variation Id:
360215
dbSNP Id:
rs5883809
gnomAD v2:
7-42003679-TA-T
gnomAD v3:
7-41964081-TA-T
gnomAD v4:
7-41964081-TA-T
MyVariant Identifiers:
chr7:g.42003681del (hg19)
chr7:g.42003680del (hg19)
chr7:g.41964083del (hg38)
chr7:g.41964082del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41964086del , CM000669.2:g.41964086del | GRCh38 |
| NC_000007.13:g.42003684del , CM000669.1:g.42003684del | GRCh37 |
| NC_000007.12:g.41970209del | NCBI36 |
| NG_008434.1:g.277939del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.*248del MANE Select | ENSP00000379258.3:n.*248del | |
| ENST00000677288.1:c.*248del | ENSP00000503986.1:n.*248del | |
| ENST00000677605.1:c.*248del | ENSP00000503743.1:n.*248del | |
| ENST00000678429.1:c.*248del | ENSP00000502957.1:n.*248del | |
| ENST00000395925.7:c.*248del | ENSP00000379258.3:n.*248del | |
| ENST00000479210.1:n.4968del | ||
| NM_000168.5:c.*248del | NP_000159.3:n.*248del | |
| XM_005249703.1:c.*248del | XP_005249760.1:n.*248del | |
| XM_005249704.2:c.*248del | XP_005249761.1:n.*248del | |
| XM_011515272.1:c.*248del | XP_011513574.1:n.*248del | |
| XM_011515273.1:c.*248del | XP_011513575.1:n.*248del | |
| XM_011515274.1:c.*248del | XP_011513576.1:n.*248del | |
| NM_000168.6:c.*248del MANE Select | NP_000159.3:n.*248del |