Linked Data
ClinVar Variation Id:
136132
ClinVar RCV Id:
RCV000123337
RCV000129400
RCV000133478
RCV000589589
RCV000677892
RCV000677893
RCV001336119
RCV002492445
RCV003162563
dbSNP Id:
rs587776416
ExAC:
16:23641306 CAT / C
gnomAD v2:
16-23641306-CAT-C
gnomAD v3:
16-23629985-CAT-C
gnomAD v4:
16-23629985-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23629986_23629987del , CM000678.2:g.23629986_23629987del | GRCh38 |
| NC_000016.9:g.23641307_23641308del , CM000678.1:g.23641307_23641308del | GRCh37 |
| NC_000016.8:g.23548808_23548809del | NCBI36 |
| NG_007406.1:g.16371_16372del , LRG_308:g.16371_16372del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.2173_2174del | ENSP00000460666.3:p.Met725ValfsTer21 | |
| ENST00000565038.2:c.212-712_212-711del | ENSP00000459882.2:n.212-712_212-711del | |
| ENST00000566069.6:c.2167_2168del | ENSP00000459237.2:p.Met723ValfsTer21 | |
| ENST00000697377.2:c.2173_2174del | ENSP00000513286.2:p.Met725ValfsTer21 | |
| ENST00000697379.2:c.2173_2174del | ENSP00000513287.2:p.Met725ValfsTer21 | |
| ENST00000561514.2:c.1282_1283del | ENSP00000460666.2:p.Met428ValfsTer21 | |
| ENST00000697374.1:c.1282_1283del | ENSP00000513284.1:p.Met428ValfsTer21 | |
| ENST00000697375.1:n.3514_3515del | ||
| ENST00000697376.1:c.1282_1283del | ENSP00000513285.1:p.Met428ValfsTer21 | |
| ENST00000697377.1:c.1282_1283del | ENSP00000513286.1:p.Met428ValfsTer21 | |
| ENST00000697378.1:n.2687_2688del | ||
| ENST00000697379.1:c.1282_1283del | ENSP00000513287.1:p.Met428ValfsTer21 | |
| ENST00000697380.1:n.1095_1096del | ||
| ENST00000697381.1:n.862_863del | ||
| ENST00000697382.1:c.1282_1283del | ENSP00000513288.1:p.Met428ValfsTer21 | |
| ENST00000697383.1:c.49-712_49-711del | ENSP00000513289.1:n.49-712_49-711del | |
| ENST00000697384.1:n.2321_2322del | ||
| ENST00000261584.9:c.2167_2168del MANE Select | ENSP00000261584.4:p.Met723ValfsTer21 | |
| ENST00000261584.8:c.2167_2168del | ENSP00000261584.4:p.Met723ValfsTer21 | |
| ENST00000565038.1:c.87-712_87-711del | ||
| ENST00000568219.5:c.1282_1283del | ENSP00000454703.2:p.Met428ValfsTer21 | |
| NM_024675.3:c.2167_2168del , LRG_308t1:c.2167_2168del | NP_078951.2:p.Met723ValfsTer21 | |
| XM_011545946.1:c.2173_2174del | XP_011544248.1:p.Met725ValfsTer21 | |
| XM_011545947.1:c.2173_2174del | XP_011544249.1:p.Met725ValfsTer21 | |
| XM_011545948.1:c.1282_1283del | XP_011544250.1:p.Met428ValfsTer21 | |
| XR_950851.1:n.2963_2964del | ||
| XM_011545946.2:c.2173_2174del | XP_011544248.1:p.Met725ValfsTer21 | |
| XM_011545947.2:c.2173_2174del | XP_011544249.1:p.Met725ValfsTer21 | |
| XM_011545948.2:c.1282_1283del | XP_011544250.1:p.Met428ValfsTer21 | |
| XM_017023671.1:c.2173_2174del | XP_016879160.1:p.Met725ValfsTer21 | |
| XM_017023672.2:c.2167_2168del | XP_016879161.1:p.Met723ValfsTer21 | |
| XM_017023673.2:c.2167_2168del | XP_016879162.1:p.Met723ValfsTer21 | |
| NM_024675.4:c.2167_2168del MANE Select | NP_078951.2:p.Met723ValfsTer21 |