Linked Data
ClinVar Variation Id:
1924457
ClinVar RCV Id:
RCV002613795
dbSNP Id:
rs746185595
ExAC:
5:37051993 GTA / G
gnomAD v2:
5-37051993-GTA-G
gnomAD v3:
5-37051891-GTA-G
gnomAD v4:
5-37051891-GTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37051893_37051894del , CM000667.2:g.37051893_37051894del | GRCh38 |
| NC_000005.9:g.37051995_37051996del , CM000667.1:g.37051995_37051996del | GRCh37 |
| NC_000005.8:g.37087752_37087753del | NCBI36 |
| NG_006987.1:g.180011_180012del | |
| NG_006987.2:g.180011_180012del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.7062+7_7062+8del MANE Select | ENSP00000282516.8:n.7062+7_7062+8del | |
| ENST00000652901.1:c.7062+7_7062+8del | ENSP00000499536.1:n.7062+7_7062+8del | |
| ENST00000282516.12:c.7062+7_7062+8del | ENSP00000282516.8:n.7062+7_7062+8del | |
| ENST00000448238.2:c.7062+7_7062+8del | ENSP00000406266.2:n.7062+7_7062+8del | |
| ENST00000514335.1:n.944+7_944+8del | ||
| ENST00000621733.1:c.1-12685_1-12684del | ENSP00000480694.1:n.1-12685_1-12684del | |
| NM_015384.4:c.7062+7_7062+8del | NP_056199.2:n.7062+7_7062+8del | |
| NM_133433.3:c.7062+7_7062+8del | NP_597677.2:n.7062+7_7062+8del | |
| XM_005248280.2:c.7062+7_7062+8del | XP_005248337.1:n.7062+7_7062+8del | |
| XM_005248282.3:c.6318+7_6318+8del | XP_005248339.2:n.6318+7_6318+8del | |
| XM_006714467.2:c.7062+7_7062+8del | XP_006714530.1:n.7062+7_7062+8del | |
| XM_006714468.1:c.6864+7_6864+8del | XP_006714531.1:n.6864+7_6864+8del | |
| XM_011514014.1:c.6681+7_6681+8del | XP_011512316.1:n.6681+7_6681+8del | |
| XM_011514015.1:c.7062+7_7062+8del | XP_011512317.1:n.7062+7_7062+8del | |
| XM_005248280.3:c.7062+7_7062+8del | XP_005248337.1:n.7062+7_7062+8del | |
| XM_005248282.5:c.6402+7_6402+8del | XP_005248339.3:n.6402+7_6402+8del | |
| XM_006714468.2:c.6864+7_6864+8del | XP_006714531.1:n.6864+7_6864+8del | |
| XM_017009329.1:c.7062+7_7062+8del | XP_016864818.1:n.7062+7_7062+8del | |
| XM_017009330.2:c.5445+7_5445+8del | XP_016864819.1:n.5445+7_5445+8del | |
| XM_017009331.1:c.5436+7_5436+8del | XP_016864820.1:n.5436+7_5436+8del | |
| NM_133433.4:c.7062+7_7062+8del MANE Select | NP_597677.2:n.7062+7_7062+8del | |
| NM_015384.5:c.7062+7_7062+8del | NP_056199.2:n.7062+7_7062+8del |