Linked Data
ClinVar Variation Id:
1268865
ClinVar RCV Id:
RCV001679970
dbSNP Id:
rs57692175
ExAC:
7:138417596 TA / T
gnomAD v2:
7-138417596-TA-T
gnomAD v3:
7-138732851-TA-T
gnomAD v4:
7-138732851-TA-T
MyVariant Identifiers:
chr7:g.138417598del (hg19)
chr7:g.138417597del (hg19)
chr7:g.138732853del (hg38)
chr7:g.138732852del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138732864del , CM000669.2:g.138732864del | GRCh38 |
| NC_000007.13:g.138417609del , CM000669.1:g.138417609del | GRCh37 |
| NC_000007.12:g.138068149del | NCBI36 |
| NG_008145.1:g.70345del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310018.7:c.1908+25del MANE Select | ENSP00000308122.2:n.1908+25del | |
| ENST00000478480.2:c.1134+25del | ENSP00000495261.1:n.1134+25del | |
| ENST00000644341.1:c.1134+25del | ENSP00000495642.1:n.1134+25del | |
| ENST00000645515.1:c.1908+25del | ENSP00000496421.1:n.1908+25del | |
| ENST00000647427.1:c.801+25del | ENSP00000496259.1:n.801+25del | |
| ENST00000310018.6:c.1908+25del | ENSP00000308122.2:n.1908+25del | |
| ENST00000353492.4:c.1908+25del | ENSP00000253856.6:n.1908+25del | |
| ENST00000393054.5:c.1908+25del | ENSP00000376774.1:n.1908+25del | |
| NM_020632.2:c.1908+25del | NP_065683.2:n.1908+25del | |
| NM_130840.2:c.1908+25del | NP_570855.2:n.1908+25del | |
| NM_130841.2:c.1908+25del | NP_570856.2:n.1908+25del | |
| XM_005250393.1:c.1908+25del | XP_005250450.1:n.1908+25del | |
| XM_005250394.2:c.1908+25del | XP_005250451.1:n.1908+25del | |
| XM_005250394.3:c.1908+25del | XP_005250451.1:n.1908+25del | |
| NM_020632.3:c.1908+25del MANE Select | NP_065683.2:n.1908+25del | |
| NM_130840.3:c.1908+25del | NP_570855.2:n.1908+25del | |
| NM_130841.3:c.1908+25del | NP_570856.2:n.1908+25del |