Linked Data
ClinVar Variation Id:
1217573
ClinVar RCV Id:
RCV001588246
dbSNP Id:
rs199898133
gnomAD v2:
6-162864112-TTC-T
gnomAD v3:
6-162443080-TTC-T
gnomAD v4:
6-162443080-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.162443090_162443091del , CM000668.2:g.162443090_162443091del | GRCh38 |
| NC_000006.11:g.162864122_162864123del , CM000668.1:g.162864122_162864123del | GRCh37 |
| NC_000006.10:g.162784112_162784113del | NCBI36 |
| NG_008289.1:g.289721_289722del | |
| NG_008289.2:g.289721_289722del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338468.8:c.171+228_171+229del | ENSP00000343589.4:n.171+228_171+229del | |
| ENST00000366894.6:c.171+228_171+229del | ENSP00000355860.2:n.171+228_171+229del | |
| ENST00000366898.6:c.171+228_171+229del MANE Select | ENSP00000355865.1:n.171+228_171+229del | |
| ENST00000673871.1:c.166+228_166+229del | ||
| ENST00000674232.1:n.189+228_189+229del | ||
| ENST00000674259.1:n.228+228_228+229del | ||
| ENST00000674493.1:n.188+228_188+229del | ||
| ENST00000674501.1:n.278+228_278+229del | ||
| ENST00000338468.7:c.-281+228_-281+229del | ENSP00000343589.3:n.-281+228_-281+229del | |
| ENST00000366892.5:c.171+228_171+229del | ENSP00000355858.1:n.171+228_171+229del | |
| ENST00000366894.5:c.-162+228_-162+229del | ENSP00000355860.1:n.-162+228_-162+229del | |
| ENST00000366896.5:c.171+228_171+229del | ENSP00000355862.1:n.171+228_171+229del | |
| ENST00000366897.5:c.171+228_171+229del | ENSP00000355863.1:n.171+228_171+229del | |
| ENST00000366898.5:c.171+228_171+229del | ENSP00000355865.1:n.171+228_171+229del | |
| ENST00000479615.5:c.-66-180317_-66-180316del | ENSP00000434414.1:n.-66-180317_-66-180316del | |
| NM_004562.2:c.171+228_171+229del | NP_004553.2:n.171+228_171+229del | |
| NM_013987.2:c.171+228_171+229del | NP_054642.2:n.171+228_171+229del | |
| NM_013988.2:c.171+228_171+229del | NP_054643.2:n.171+228_171+229del | |
| XM_011535863.1:c.171+228_171+229del | XP_011534165.1:n.171+228_171+229del | |
| XM_011535864.1:c.171+228_171+229del | XP_011534166.1:n.171+228_171+229del | |
| XM_011535865.1:c.171+228_171+229del | XP_011534167.1:n.171+228_171+229del | |
| XM_011535866.1:c.171+228_171+229del | XP_011534168.1:n.171+228_171+229del | |
| XM_011535867.1:c.171+228_171+229del | XP_011534169.1:n.171+228_171+229del | |
| XM_017010908.1:c.285+228_285+229del | XP_016866397.1:n.285+228_285+229del | |
| XM_017010909.2:c.-66-180317_-66-180316del | XP_016866398.1:n.-66-180317_-66-180316del | |
| XM_024446449.1:c.-66-180317_-66-180316del | XP_024302217.1:n.-66-180317_-66-180316del | |
| XR_001743443.2:n.277+228_277+229del | ||
| NM_004562.3:c.171+228_171+229del MANE Select | NP_004553.2:n.171+228_171+229del | |
| NM_013987.3:c.171+228_171+229del | NP_054642.2:n.171+228_171+229del | |
| NM_013988.3:c.171+228_171+229del | NP_054643.2:n.171+228_171+229del |