Linked Data
dbSNP Id:
rs1325158760
gnomAD v2:
5-36995560-CTATA-C
gnomAD v3:
5-36995458-CTATA-C
gnomAD v4:
5-36995458-CTATA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36995460_36995463del , CM000667.2:g.36995460_36995463del | GRCh38 |
| NC_000005.9:g.36995562_36995565del , CM000667.1:g.36995562_36995565del | GRCh37 |
| NC_000005.8:g.37031319_37031322del | NCBI36 |
| NG_006987.1:g.123578_123581del | |
| NG_006987.2:g.123578_123581del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.3122-162_3122-159del MANE Select | ENSP00000282516.8:n.3122-162_3122-159del | |
| ENST00000652901.1:c.3122-162_3122-159del | ENSP00000499536.1:n.3122-162_3122-159del | |
| ENST00000282516.12:c.3122-162_3122-159del | ENSP00000282516.8:n.3122-162_3122-159del | |
| ENST00000448238.2:c.3122-162_3122-159del | ENSP00000406266.2:n.3122-162_3122-159del | |
| ENST00000503274.1:n.311_314del | ||
| ENST00000504430.5:n.2742-162_2742-159del | ||
| ENST00000621733.1:c.1-69118_1-69115del | ENSP00000480694.1:n.1-69118_1-69115del | |
| NM_015384.4:c.3122-162_3122-159del | NP_056199.2:n.3122-162_3122-159del | |
| NM_133433.3:c.3122-162_3122-159del | NP_597677.2:n.3122-162_3122-159del | |
| XM_005248280.2:c.3122-162_3122-159del | XP_005248337.1:n.3122-162_3122-159del | |
| XM_005248282.3:c.2378-162_2378-159del | XP_005248339.2:n.2378-162_2378-159del | |
| XM_006714467.2:c.3122-162_3122-159del | XP_006714530.1:n.3122-162_3122-159del | |
| XM_006714468.1:c.3122-162_3122-159del | XP_006714531.1:n.3122-162_3122-159del | |
| XM_011514014.1:c.3122-5357_3122-5354del | XP_011512316.1:n.3122-5357_3122-5354del | |
| XM_011514015.1:c.3122-162_3122-159del | XP_011512317.1:n.3122-162_3122-159del | |
| XM_005248280.3:c.3122-162_3122-159del | XP_005248337.1:n.3122-162_3122-159del | |
| XM_005248282.5:c.2462-162_2462-159del | XP_005248339.3:n.2462-162_2462-159del | |
| XM_006714468.2:c.3122-162_3122-159del | XP_006714531.1:n.3122-162_3122-159del | |
| XM_017009329.1:c.3122-162_3122-159del | XP_016864818.1:n.3122-162_3122-159del | |
| XM_017009330.2:c.1505-162_1505-159del | XP_016864819.1:n.1505-162_1505-159del | |
| XM_017009331.1:c.1496-162_1496-159del | XP_016864820.1:n.1496-162_1496-159del | |
| NM_133433.4:c.3122-162_3122-159del MANE Select | NP_597677.2:n.3122-162_3122-159del | |
| NM_015384.5:c.3122-162_3122-159del | NP_056199.2:n.3122-162_3122-159del |