Linked Data
ClinVar Variation Id:
426650
ClinVar RCV Id:
RCV000489804
dbSNP Id:
rs1156299044
gnomAD v2:
1-110167933-GGT-G
gnomAD v3:
1-109625311-GGT-G
gnomAD v4:
1-109625311-GGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109625313_109625314del , CM000663.2:g.109625313_109625314del | GRCh38 |
| NC_000001.10:g.110167935_110167936del , CM000663.1:g.110167935_110167936del | GRCh37 |
| NC_000001.9:g.109969458_109969459del | NCBI36 |
| NG_034075.1:g.10501_10502del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.102_103del | ENSP00000256578.4:p.Gly35SerfsTer? | |
| ENST00000358729.9:c.102_103del | ENSP00000351573.5:p.Gly35SerfsTer? | |
| ENST00000369840.7:c.102_103del | ENSP00000358855.3:p.Gly35SerfsTer? | |
| ENST00000474459.6:n.459_460del | ||
| ENST00000476688.3:c.36-847_36-846del | ENSP00000437025.2:n.36-847_36-846del | |
| ENST00000486282.7:n.184-349_184-348del | ||
| ENST00000524975.2:n.62_63del | ||
| ENST00000525415.2:n.360_361del | ||
| ENST00000526301.6:n.165_166del | ||
| ENST00000527846.7:n.78-349_78-348del | ||
| ENST00000528270.6:c.*90_*91del | ENSP00000434891.2:n.*90_*91del | |
| ENST00000528667.7:c.102_103del MANE Select | ENSP00000436541.2:p.Gly35SerfsTer? | |
| ENST00000531203.6:c.-91_-90del | ENSP00000431975.2:n.-91_-90del | |
| ENST00000531734.6:c.21_22del | ENSP00000433739.2:p.Gly8SerfsTer? | |
| ENST00000652975.2:c.92-349_92-348del | ENSP00000499620.2:n.92-349_92-348del | |
| ENST00000655992.1:c.-91_-90del | ENSP00000499740.1:n.-91_-90del | |
| ENST00000659122.2:c.102_103del | ENSP00000499621.2:p.Gly35SerfsTer? | |
| ENST00000663749.1:c.92-349_92-348del | ENSP00000499739.1:n.92-349_92-348del | |
| ENST00000667949.2:c.-378-349_-378-348del | ENSP00000499465.2:n.-378-349_-378-348del | |
| ENST00000668421.1:c.*43_*44del | ENSP00000499362.1:n.*43_*44del | |
| ENST00000679379.1:c.92-349_92-348del | ENSP00000505528.1:n.92-349_92-348del | |
| ENST00000679593.1:c.102_103del | ENSP00000505999.1:p.Gly35SerfsTer? | |
| ENST00000679880.1:n.360_361del | ||
| ENST00000679892.1:c.92-349_92-348del | ENSP00000504882.1:n.92-349_92-348del | |
| ENST00000679981.1:c.92-349_92-348del | ENSP00000506422.1:n.92-349_92-348del | |
| ENST00000680132.1:c.92-349_92-348del | ENSP00000505950.1:n.92-349_92-348del | |
| ENST00000680148.1:c.92-349_92-348del | ENSP00000505994.1:n.92-349_92-348del | |
| ENST00000680170.1:n.360_361del | ||
| ENST00000680192.1:n.453_454del | ||
| ENST00000680519.1:n.443-349_443-348del | ||
| ENST00000680531.1:c.92-349_92-348del | ENSP00000506332.1:n.92-349_92-348del | |
| ENST00000680820.1:c.92-349_92-348del | ENSP00000505735.1:n.92-349_92-348del | |
| ENST00000680832.1:c.92-349_92-348del | ENSP00000505774.1:n.92-349_92-348del | |
| ENST00000680929.1:c.92-349_92-348del | ENSP00000504916.1:n.92-349_92-348del | |
| ENST00000681108.1:c.92-349_92-348del | ENSP00000506701.1:n.92-349_92-348del | |
| ENST00000681121.1:c.-91_-90del | ENSP00000506466.1:n.-91_-90del | |
| ENST00000681132.1:c.92-349_92-348del | ENSP00000506195.1:n.92-349_92-348del | |
| ENST00000681181.1:c.92-349_92-348del | ENSP00000506038.1:n.92-349_92-348del | |
| ENST00000681218.1:c.92-349_92-348del | ENSP00000505976.1:n.92-349_92-348del | |
| ENST00000681246.1:c.102_103del | ENSP00000505534.1:p.Gly35SerfsTer? | |
| ENST00000681496.1:c.92-349_92-348del | ENSP00000505948.1:n.92-349_92-348del | |
| ENST00000681834.1:n.300-349_300-348del | ||
| ENST00000681862.1:c.92-349_92-348del | ENSP00000505537.1:n.92-349_92-348del | |
| ENST00000256578.7:c.264_265del | ENSP00000256578.3:p.Gly89SerfsTer? | |
| ENST00000342115.8:c.21_22del | ENSP00000345498.4:p.Gly8SerfsTer? | |
| ENST00000358729.8:c.160-349_160-348del | ENSP00000351573.4:n.160-349_160-348del | |
| ENST00000369840.6:c.175_176del | ||
| ENST00000459643.2:n.252-349_252-348del | ||
| ENST00000474459.5:c.-378-349_-378-348del | ENSP00000432344.1:n.-378-349_-378-348del | |
| ENST00000486282.6:n.153-349_153-348del | ||
| ENST00000526301.5:n.303_304del | ||
| ENST00000527846.5:c.165_166del | ENSP00000431904.1:p.Gly56SerfsTer? | |
| ENST00000528270.5:c.295_296del | ENSP00000434891.1:n.295_296del | |
| ENST00000528454.5:c.-91_-90del | ENSP00000437164.1:n.-91_-90del | |
| ENST00000528667.5:c.264_265del | ENSP00000436541.1:p.Gly89SerfsTer? | |
| ENST00000531203.5:c.-91_-90del | ENSP00000431975.1:n.-91_-90del | |
| ENST00000531734.5:c.21_22del | ENSP00000433739.1:p.Gly8SerfsTer? | |
| NM_001257360.1:c.264_265del | NP_001244289.1:p.Gly89SerfsTer? | |
| NM_001257361.1:c.-91_-90del | NP_001244290.1:n.-91_-90del | |
| NM_001308170.1:c.160-349_160-348del | NP_001295099.1:n.160-349_160-348del | |
| NM_004037.7:c.264_265del | NP_004028.3:p.Gly89SerfsTer? | |
| NM_139156.3:c.21_22del | NP_631895.1:p.Gly8SerfsTer? | |
| XM_011541247.1:c.598-349_598-348del | XP_011539549.1:n.598-349_598-348del | |
| XM_011541248.1:c.598-349_598-348del | XP_011539550.1:n.598-349_598-348del | |
| XR_946607.1:n.621-349_621-348del | ||
| XM_024446431.1:c.160-349_160-348del | XP_024302199.1:n.160-349_160-348del | |
| XM_024446432.1:c.160-349_160-348del | XP_024302200.1:n.160-349_160-348del | |
| XR_002956282.1:n.796-349_796-348del | ||
| NM_001257360.2:c.264_265del | NP_001244289.1:p.Gly89SerfsTer? | |
| NM_001368809.2:c.102_103del MANE Select | NP_001355738.1:p.Gly35SerfsTer? | |
| NM_004037.9:c.102_103del | NP_004028.4:p.Gly35SerfsTer? | |
| NM_001257361.2:c.-91_-90del | NP_001244290.1:n.-91_-90del | |
| NM_139156.4:c.21_22del | NP_631895.1:p.Gly8SerfsTer? |