Linked Data
dbSNP Id:
rs766014856
ExAC:
5:37049195 CT / C
gnomAD v2:
5-37049195-CT-C
gnomAD v4:
5-37049093-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37049096del , CM000667.2:g.37049096del | GRCh38 |
| NC_000005.9:g.37049198del , CM000667.1:g.37049198del | GRCh37 |
| NC_000005.8:g.37084955del | NCBI36 |
| NG_006987.1:g.177214del | |
| NG_006987.2:g.177214del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.6764-15del MANE Select | ENSP00000282516.8:n.6764-15del | |
| ENST00000652901.1:c.6764-15del | ENSP00000499536.1:n.6764-15del | |
| ENST00000282516.12:c.6764-15del | ENSP00000282516.8:n.6764-15del | |
| ENST00000448238.2:c.6764-15del | ENSP00000406266.2:n.6764-15del | |
| ENST00000621733.1:c.1-15482del | ENSP00000480694.1:n.1-15482del | |
| NM_015384.4:c.6764-15del | NP_056199.2:n.6764-15del | |
| NM_133433.3:c.6764-15del | NP_597677.2:n.6764-15del | |
| XM_005248280.2:c.6764-15del | XP_005248337.1:n.6764-15del | |
| XM_005248282.3:c.6020-15del | XP_005248339.2:n.6020-15del | |
| XM_006714467.2:c.6764-15del | XP_006714530.1:n.6764-15del | |
| XM_006714468.1:c.6566-15del | XP_006714531.1:n.6566-15del | |
| XM_011514014.1:c.6383-15del | XP_011512316.1:n.6383-15del | |
| XM_011514015.1:c.6764-15del | XP_011512317.1:n.6764-15del | |
| XM_005248280.3:c.6764-15del | XP_005248337.1:n.6764-15del | |
| XM_005248282.5:c.6104-15del | XP_005248339.3:n.6104-15del | |
| XM_006714468.2:c.6566-15del | XP_006714531.1:n.6566-15del | |
| XM_017009329.1:c.6764-15del | XP_016864818.1:n.6764-15del | |
| XM_017009330.2:c.5147-15del | XP_016864819.1:n.5147-15del | |
| XM_017009331.1:c.5138-15del | XP_016864820.1:n.5138-15del | |
| NM_133433.4:c.6764-15del MANE Select | NP_597677.2:n.6764-15del | |
| NM_015384.5:c.6764-15del | NP_056199.2:n.6764-15del |