Linked Data
ClinVar Variation Id:
91375
ClinVar RCV Id:
RCV000076894
RCV000216774
RCV000414373
RCV000524480
RCV000663080
RCV001028064
RCV002483127
RCV003162500
RCV003430659
dbSNP Id:
rs267608154
ExAC:
7:6035203 ACTGT / A
gnomAD v2:
7-6035203-ACTGT-A
gnomAD v3:
7-5995572-ACTGT-A
gnomAD v4:
7-5995572-ACTGT-A
COSMIC:
COSM5547641
MyVariant Identifiers:
chr7:g.6035204_6035207del (hg19)
chr7:g.5995574_5995577del (hg38)
chr7:g.5995573_5995576del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5995581_5995584del , CM000669.2:g.5995581_5995584del | GRCh38 |
| NC_000007.13:g.6035212_6035215del , CM000669.1:g.6035212_6035215del | GRCh37 |
| NC_000007.12:g.6001738_6001741del | NCBI36 |
| NG_008466.1:g.18531_18534del , LRG_161:g.18531_18534del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*300-3519_*300-3516del | ENSP00000514615.2:n.*300-3519_*300-3516de... | |
| ENST00000699840.2:c.858_861del | ENSP00000514638.2:p.Arg286SerfsTer19 | |
| ENST00000699930.2:c.753_756del | ENSP00000514695.2:p.Arg251SerfsTer19 | |
| ENST00000406569.8:c.861_864del | ENSP00000514464.1:p.Arg287SerfsTer19 | |
| ENST00000644110.2:c.*455_*458del | ENSP00000496392.2:n.*455_*458del | |
| ENST00000699752.1:c.861_864del | ENSP00000514561.1:p.Arg287SerfsTer19 | |
| ENST00000699753.1:c.*202+1750_*202+1753del | ENSP00000514562.1:n.*202+1750_*202+1753de... | |
| ENST00000699754.1:c.706-3519_706-3516del | ENSP00000514563.1:n.706-3519_706-3516del | |
| ENST00000699755.1:c.*260_*263del | ENSP00000514564.1:n.*260_*263del | |
| ENST00000699756.1:c.*448_*451del | ENSP00000514565.1:n.*448_*451del | |
| ENST00000699757.1:c.*118_*121del | ENSP00000514566.1:n.*118_*121del | |
| ENST00000699758.1:c.*118_*121del | ENSP00000514567.1:n.*118_*121del | |
| ENST00000699759.1:n.933_936del | ||
| ENST00000699760.1:c.543_546del | ENSP00000514568.1:p.Arg181SerfsTer19 | |
| ENST00000699761.1:c.456_459del | ENSP00000514569.1:p.Arg152SerfsTer19 | |
| ENST00000699762.1:c.288_291del | ENSP00000514570.1:p.Arg96SerfsTer19 | |
| ENST00000699763.1:c.456_459del | ENSP00000514571.1:p.Arg152SerfsTer19 | |
| ENST00000699764.1:c.861_864del | ENSP00000514572.1:p.Arg287SerfsTer19 | |
| ENST00000699765.1:c.485+1750_485+1753del | ENSP00000514573.1:n.485+1750_485+1753del | |
| ENST00000699766.1:c.861_864del | ENSP00000514574.1:p.Arg287SerfsTer19 | |
| ENST00000699767.1:c.861_864del | ENSP00000514575.1:p.Arg287SerfsTer19 | |
| ENST00000699768.1:c.861_864del | ENSP00000514576.1:p.Arg287SerfsTer19 | |
| ENST00000699811.1:c.456_459del | ENSP00000514614.1:p.Arg152SerfsTer19 | |
| ENST00000699813.1:n.974_977del | ||
| ENST00000699814.1:c.527-3519_527-3516del | ||
| ENST00000699815.1:c.*305-972_*305-969del | ENSP00000514616.1:n.*305-972_*305-969del | |
| ENST00000699816.1:c.456_459del | ENSP00000514617.1:p.Arg152SerfsTer19 | |
| ENST00000699817.1:c.*455_*458del | ENSP00000514618.1:n.*455_*458del | |
| ENST00000699818.1:c.456_459del | ENSP00000514619.1:p.Arg152SerfsTer19 | |
| ENST00000699819.1:c.*60+1750_*60+1753del | ENSP00000514620.1:n.*60+1750_*60+1753del | |
| ENST00000699820.1:c.861_864del | ENSP00000514621.1:p.Arg287SerfsTer19 | |
| ENST00000699821.1:c.456_459del | ENSP00000514622.1:p.Arg152SerfsTer19 | |
| ENST00000699822.1:c.*313_*316del | ENSP00000514623.1:n.*313_*316del | |
| ENST00000699823.1:c.456_459del | ENSP00000514624.1:p.Arg152SerfsTer19 | |
| ENST00000699824.1:c.*364_*367del | ENSP00000514625.1:n.*364_*367del | |
| ENST00000699825.1:c.456_459del | ENSP00000514626.1:p.Arg152SerfsTer19 | |
| ENST00000699826.1:c.*260_*263del | ENSP00000514627.1:n.*260_*263del | |
| ENST00000699827.1:c.693_696del | ENSP00000514628.1:p.Arg231SerfsTer19 | |
| ENST00000699828.1:c.861_864del | ENSP00000514629.1:p.Arg287SerfsTer19 | |
| ENST00000699829.1:c.*362_*365del | ENSP00000514630.1:n.*362_*365del | |
| ENST00000699830.1:c.*260_*263del | ENSP00000514631.1:n.*260_*263del | |
| ENST00000699833.1:n.2633_2636del | ||
| ENST00000699837.1:c.456_459del | ENSP00000514635.1:p.Arg152SerfsTer19 | |
| ENST00000699838.1:c.*761_*764del | ENSP00000514636.1:n.*761_*764del | |
| ENST00000699839.1:c.1047_1050del | ENSP00000514637.1:p.Arg349SerfsTer19 | |
| ENST00000699840.1:c.858_861del | ENSP00000514638.1:p.Arg286SerfsTer19 | |
| ENST00000699916.1:c.*118_*121del | ENSP00000514684.1:n.*118_*121del | |
| ENST00000699917.1:c.*310_*313del | ENSP00000514685.1:n.*310_*313del | |
| ENST00000699918.1:c.*362_*365del | ENSP00000514686.1:n.*362_*365del | |
| ENST00000699919.1:c.*448_*451del | ENSP00000514687.1:n.*448_*451del | |
| ENST00000699920.1:c.*497_*500del | ENSP00000514688.1:n.*497_*500del | |
| ENST00000699928.1:c.861_864del | ENSP00000514693.1:p.Arg287SerfsTer19 | |
| ENST00000699929.1:c.*162_*165del | ENSP00000514694.1:n.*162_*165del | |
| ENST00000699930.1:c.753_756del | ENSP00000514695.1:p.Arg251SerfsTer19 | |
| ENST00000699931.1:n.972_975del | ||
| ENST00000699932.1:c.803+1750_803+1753del | ENSP00000514696.1:n.803+1750_803+1753del | |
| ENST00000699933.1:n.883+1750_883+1753del | ||
| ENST00000699951.1:c.803+1750_803+1753del | ENSP00000514706.1:n.803+1750_803+1753del | |
| ENST00000699952.1:c.803+1750_803+1753del | ENSP00000514707.1:n.803+1750_803+1753del | |
| ENST00000699953.1:c.763_766del | ENSP00000514708.1:p.Thr255PhefsTer? | |
| ENST00000699954.1:c.*162_*165del | ENSP00000514709.1:n.*162_*165del | |
| ENST00000265849.12:c.861_864del MANE Select | ENSP00000265849.7:p.Arg287SerfsTer19 | |
| ENST00000642292.1:c.456_459del | ENSP00000495524.1:p.Arg152SerfsTer19 | |
| ENST00000642456.1:c.456_459del | ENSP00000493814.1:p.Arg152SerfsTer19 | |
| ENST00000643595.1:c.*260_*263del | ENSP00000494497.1:n.*260_*263del | |
| ENST00000644110.1:c.543_546del | ENSP00000496392.1:p.Arg181SerfsTer19 | |
| ENST00000265849.11:c.861_864del | ENSP00000265849.7:p.Arg287SerfsTer19 | |
| ENST00000382321.5:c.803+1750_803+1753del | ENSP00000371758.4:n.803+1750_803+1753del | |
| ENST00000406569.7:n.861_864del | ||
| ENST00000441476.6:c.543_546del | ENSP00000392843.2:p.Arg181SerfsTer19 | |
| ENST00000469652.1:n.62+10417_62+10420del | ||
| NM_000535.5:c.861_864del , LRG_161t1:c.861_864del | NP_000526.1:p.Arg287SerfsTer19 | |
| NR_003085.2:n.943_946del | ||
| XM_006715742.2:c.855_858del | XP_006715805.1:p.Arg285SerfsTer19 | |
| XM_011515427.1:c.906_909del | XP_011513729.1:p.Arg302SerfsTer19 | |
| XM_011515428.1:c.906_909del | XP_011513730.1:p.Arg302SerfsTer19 | |
| XM_011515429.1:c.543_546del | XP_011513731.1:p.Arg181SerfsTer19 | |
| XM_011515430.1:c.543_546del | XP_011513732.1:p.Arg181SerfsTer19 | |
| NM_000535.6:c.861_864del | NP_000526.2:p.Arg287SerfsTer19 | |
| NM_001322003.1:c.456_459del | NP_001308932.1:p.Arg152SerfsTer19 | |
| NM_001322004.1:c.456_459del | NP_001308933.1:p.Arg152SerfsTer19 | |
| NM_001322005.1:c.456_459del | NP_001308934.1:p.Arg152SerfsTer19 | |
| NM_001322006.1:c.861_864del | NP_001308935.1:p.Arg287SerfsTer19 | |
| NM_001322007.1:c.543_546del | NP_001308936.1:p.Arg181SerfsTer19 | |
| NM_001322008.1:c.543_546del | NP_001308937.1:p.Arg181SerfsTer19 | |
| NM_001322009.1:c.456_459del | NP_001308938.1:p.Arg152SerfsTer19 | |
| NM_001322010.1:c.456_459del | NP_001308939.1:p.Arg152SerfsTer19 | |
| NM_001322011.1:c.-73_-70del | NP_001308940.1:n.-73_-70del | |
| NM_001322012.1:c.-73_-70del | NP_001308941.1:n.-73_-70del | |
| NM_001322013.1:c.288_291del | NP_001308942.1:p.Arg96SerfsTer19 | |
| NM_001322014.1:c.861_864del | NP_001308943.1:p.Arg287SerfsTer19 | |
| NM_001322015.1:c.552_555del | NP_001308944.1:p.Arg184SerfsTer19 | |
| NR_136154.1:n.948_951del | ||
| XM_017012342.2:c.-31+1750_-31+1753del | XP_016867831.1:n.-31+1750_-31+1753del | |
| XM_024446800.1:c.456_459del | XP_024302568.1:p.Arg152SerfsTer19 | |
| NM_000535.7:c.861_864del MANE Select | NP_000526.2:p.Arg287SerfsTer19 | |
| NM_001322003.2:c.456_459del | NP_001308932.1:p.Arg152SerfsTer19 | |
| NM_001322004.2:c.456_459del | NP_001308933.1:p.Arg152SerfsTer19 | |
| NM_001322005.2:c.456_459del | NP_001308934.1:p.Arg152SerfsTer19 | |
| NM_001322006.2:c.861_864del | NP_001308935.1:p.Arg287SerfsTer19 | |
| NM_001322008.2:c.543_546del | NP_001308937.1:p.Arg181SerfsTer19 | |
| NM_001322009.2:c.456_459del | NP_001308938.1:p.Arg152SerfsTer19 | |
| NM_001322010.2:c.456_459del | NP_001308939.1:p.Arg152SerfsTer19 | |
| NM_001322011.2:c.-73_-70del | NP_001308940.1:n.-73_-70del | |
| NM_001322012.2:c.-73_-70del | NP_001308941.1:n.-73_-70del | |
| NM_001322013.2:c.288_291del | NP_001308942.1:p.Arg96SerfsTer19 | |
| NM_001322014.2:c.861_864del | NP_001308943.1:p.Arg287SerfsTer19 | |
| NM_001322015.2:c.552_555del | NP_001308944.1:p.Arg184SerfsTer19 | |
| NM_001322007.2:c.543_546del | NP_001308936.1:p.Arg181SerfsTer19 |