Linked Data
ClinVar Variation Id:
987356
dbSNP Id:
rs764877312
ExAC:
1:8045014 GGCC / G
gnomAD v2:
1-8045014-GGCC-G
gnomAD v3:
1-7984954-GGCC-G
gnomAD v4:
1-7984954-GGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7984955_7984957del , CM000663.2:g.7984955_7984957del | GRCh38 |
| NC_000001.10:g.8045015_8045017del , CM000663.1:g.8045015_8045017del | GRCh37 |
| NC_000001.9:g.7967602_7967604del | NCBI36 |
| NG_008271.1:g.28302_28304del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.471_473del MANE Select | ENSP00000340278.5:p.Pro158del | |
| ENST00000338639.9:c.471_473del | ENSP00000340278.5:p.Pro158del | |
| ENST00000377488.5:c.471_473del | ENSP00000366708.1:p.Pro158del | |
| ENST00000377491.5:c.471_473del | ENSP00000366711.1:p.Pro158del | |
| ENST00000377493.9:c.411_413del | ENSP00000466242.1:p.Pro138del | |
| ENST00000469225.1:c.384_386del | ENSP00000466756.1:p.Pro129del | |
| ENST00000493373.5:c.471_473del | ENSP00000465404.1:p.Pro158del | |
| ENST00000493678.5:c.471_473del | ENSP00000418770.1:p.Pro158del | |
| NM_001123377.1:c.471_473del | NP_001116849.1:p.Pro158del | |
| NM_007262.4:c.471_473del | NP_009193.2:p.Pro158del | |
| XM_005263424.2:c.471_473del | XP_005263481.1:p.Pro158del | |
| XM_005263424.3:c.471_473del | XP_005263481.1:p.Pro158del | |
| NM_007262.5:c.471_473del MANE Select | NP_009193.2:p.Pro158del | |
| NM_001123377.2:c.471_473del | NP_001116849.1:p.Pro158del |