Linked Data
ClinVar Variation Id:
556074
ClinVar RCV Id:
RCV000672020
dbSNP Id:
rs1293576848
gnomAD v2:
13-23908119-TCTC-T
gnomAD v4:
13-23333980-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23333983_23333985del , CM000675.2:g.23333983_23333985del | GRCh38 |
| NC_000013.10:g.23908122_23908124del , CM000675.1:g.23908122_23908124del | GRCh37 |
| NC_000013.9:g.22806122_22806124del | NCBI36 |
| NG_012342.1:g.104720_104722del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+19802_2185+19804del | ENSP00000508399.1:n.2185+19802_2185+19804... | |
| ENST00000682944.1:c.9920_9922del | ENSP00000507173.1:p.Gly3307del | |
| ENST00000683210.1:c.2185+19802_2185+19804del | ENSP00000506739.1:n.2185+19802_2185+19804... | |
| ENST00000683270.1:c.6445+3439_6445+3441del | ENSP00000507624.1:n.6445+3439_6445+3441de... | |
| ENST00000683367.1:c.2177-4499_2177-4497del | ENSP00000507780.1:n.2177-4499_2177-4497de... | |
| ENST00000683489.1:c.2292-4031_2292-4029del | ENSP00000508403.1:n.2292-4031_2292-4029de... | |
| ENST00000683680.1:c.2319-4031_2319-4029del | ENSP00000507223.1:n.2319-4031_2319-4029de... | |
| ENST00000684163.1:c.2204-4499_2204-4497del | ENSP00000508262.1:n.2204-4499_2204-4497de... | |
| ENST00000684196.1:n.4543-4499_4543-4497del | ||
| ENST00000684325.1:c.2186-12309_2186-12307del | ENSP00000508121.1:n.2186-12309_2186-12307... | |
| ENST00000684385.1:c.2221-4499_2221-4497del | ENSP00000507855.1:n.2221-4499_2221-4497de... | |
| ENST00000684497.1:c.2186-11339_2186-11337del | ENSP00000507057.1:n.2186-11339_2186-11337... | |
| ENST00000382292.9:c.9893_9895del MANE Select | ENSP00000371729.3:p.Gly3298del | |
| ENST00000423156.2:c.2186-4499_2186-4497del | ENSP00000390925.2:n.2186-4499_2186-4497de... | |
| ENST00000455470.6:c.2432-4499_2432-4497del | ENSP00000406565.2:n.2432-4499_2432-4497de... | |
| ENST00000382292.7:c.9893_9895del | ENSP00000371729.3:p.Gly3298del | |
| ENST00000382298.7:c.9893_9895del | ENSP00000371735.3:p.Gly3298del | |
| ENST00000402364.1:c.7643_7645del | ENSP00000385844.1:p.Gly2548del | |
| ENST00000423156.1:c.1058-4499_1058-4497del | ENSP00000390925.1:n.1058-4499_1058-4497de... | |
| ENST00000455470.5:c.2130-4499_2130-4497del | ||
| NM_001278055.1:c.9452_9454del | NP_001264984.1:p.Gly3151del | |
| NM_014363.5:c.9893_9895del | NP_055178.3:p.Gly3298del | |
| XM_005266338.1:c.9920_9922del | XP_005266395.1:p.Gly3307del | |
| XM_011535038.1:c.9944_9946del | XP_011533340.1:p.Gly3315del | |
| XM_011535039.1:c.9911_9913del | XP_011533341.1:p.Gly3304del | |
| XM_005266338.2:c.9920_9922del | XP_005266395.1:p.Gly3307del | |
| XM_011535039.2:c.9911_9913del | XP_011533341.1:p.Gly3304del | |
| XM_017020539.1:c.9884_9886del | XP_016876028.1:p.Gly3295del | |
| XM_024449337.1:c.9920_9922del | XP_024305105.1:p.Gly3307del | |
| NM_014363.6:c.9893_9895del MANE Select | NP_055178.3:p.Gly3298del | |
| NM_001278055.2:c.9452_9454del | NP_001264984.1:p.Gly3151del |