Linked Data
dbSNP Id:
rs1409995146
gnomAD v2:
5-36995542-CACAT-C
gnomAD v3:
5-36995440-CACAT-C
gnomAD v4:
5-36995440-CACAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36995446_36995449del , CM000667.2:g.36995446_36995449del | GRCh38 |
| NC_000005.9:g.36995548_36995551del , CM000667.1:g.36995548_36995551del | GRCh37 |
| NC_000005.8:g.37031305_37031308del | NCBI36 |
| NG_006987.1:g.123564_123567del | |
| NG_006987.2:g.123564_123567del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.3122-176_3122-173del MANE Select | ENSP00000282516.8:n.3122-176_3122-173del | |
| ENST00000652901.1:c.3122-176_3122-173del | ENSP00000499536.1:n.3122-176_3122-173del | |
| ENST00000282516.12:c.3122-176_3122-173del | ENSP00000282516.8:n.3122-176_3122-173del | |
| ENST00000448238.2:c.3122-176_3122-173del | ENSP00000406266.2:n.3122-176_3122-173del | |
| ENST00000503274.1:n.297_300del | ||
| ENST00000504430.5:n.2742-176_2742-173del | ||
| ENST00000621733.1:c.1-69132_1-69129del | ENSP00000480694.1:n.1-69132_1-69129del | |
| NM_015384.4:c.3122-176_3122-173del | NP_056199.2:n.3122-176_3122-173del | |
| NM_133433.3:c.3122-176_3122-173del | NP_597677.2:n.3122-176_3122-173del | |
| XM_005248280.2:c.3122-176_3122-173del | XP_005248337.1:n.3122-176_3122-173del | |
| XM_005248282.3:c.2378-176_2378-173del | XP_005248339.2:n.2378-176_2378-173del | |
| XM_006714467.2:c.3122-176_3122-173del | XP_006714530.1:n.3122-176_3122-173del | |
| XM_006714468.1:c.3122-176_3122-173del | XP_006714531.1:n.3122-176_3122-173del | |
| XM_011514014.1:c.3122-5371_3122-5368del | XP_011512316.1:n.3122-5371_3122-5368del | |
| XM_011514015.1:c.3122-176_3122-173del | XP_011512317.1:n.3122-176_3122-173del | |
| XM_005248280.3:c.3122-176_3122-173del | XP_005248337.1:n.3122-176_3122-173del | |
| XM_005248282.5:c.2462-176_2462-173del | XP_005248339.3:n.2462-176_2462-173del | |
| XM_006714468.2:c.3122-176_3122-173del | XP_006714531.1:n.3122-176_3122-173del | |
| XM_017009329.1:c.3122-176_3122-173del | XP_016864818.1:n.3122-176_3122-173del | |
| XM_017009330.2:c.1505-176_1505-173del | XP_016864819.1:n.1505-176_1505-173del | |
| XM_017009331.1:c.1496-176_1496-173del | XP_016864820.1:n.1496-176_1496-173del | |
| NM_133433.4:c.3122-176_3122-173del MANE Select | NP_597677.2:n.3122-176_3122-173del | |
| NM_015384.5:c.3122-176_3122-173del | NP_056199.2:n.3122-176_3122-173del |