Linked Data
ClinVar Variation Id:
358799
dbSNP Id:
rs35434068
ExAC:
7:127251732 TA / T
gnomAD v2:
7-127251732-TA-T
gnomAD v3:
7-127611678-TA-T
gnomAD v4:
7-127611678-TA-T
MyVariant Identifiers:
chr7:g.127251734del (hg19)
chr7:g.127251733del (hg19)
chr7:g.127611680del (hg38)
chr7:g.127611679del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127611689del , CM000669.2:g.127611689del | GRCh38 |
| NC_000007.13:g.127251743del , CM000669.1:g.127251743del | GRCh37 |
| NC_000007.12:g.127038979del | NCBI36 |
| NG_012848.1:g.9048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639438.3:c.772-3del MANE Select | ENSP00000491782.1:n.772-3del | |
| ENST00000338516.7:c.772-3del | ENSP00000344297.4:n.772-3del | |
| ENST00000341640.6:c.748-3del | ENSP00000339906.2:n.748-3del | |
| ENST00000378740.6:c.748-3del | ENSP00000368014.3:n.748-3del | |
| ENST00000463946.5:c.742-3del | ENSP00000451923.1:n.742-3del | |
| ENST00000483494.5:c.*137del | ENSP00000473846.1:n.*137del | |
| NM_006193.2:c.748-3del | NP_006184.2:n.748-3del | |
| XM_011516276.1:c.772-3del | XP_011514578.1:n.772-3del | |
| NM_001366110.1:c.772-3del MANE Select | NP_001353039.1:n.772-3del | |
| NM_001366111.1:c.772-3del | NP_001353040.1:n.772-3del |