UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
208982
ClinVar RCV Id:
RCV000190901
dbSNP Id:
rs863223401
gnomAD v4:
17-46938605-CAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46938612_46938614del , CM000679.2:g.46938612_46938614del | GRCh38 |
| NC_000017.10:g.45015978_45015980del , CM000679.1:g.45015978_45015980del | GRCh37 |
| NC_000017.9:g.42370977_42370979del | NCBI36 |
| NG_031806.1:g.20493_20495del | |
| NG_031806.2:g.20493_20495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225567.9:c.491_493del (GOSR2) | ENSP00000225567.4:p.Lys164del | |
| ENST00000393456.7:c.296_298del (GOSR2) | ENSP00000377101.3:p.Lys99del | |
| ENST00000573224.2:c.491_493del (GOSR2) | ENSP00000461784.2:p.Lys164del | |
| ENST00000576910.7:c.485_487del (GOSR2) | ENSP00000461673.2:p.Lys162del | |
| ENST00000623037.2:c.547_549del (GOSR2) | ENSP00000492669.1:p.Arg183del | |
| ENST00000638189.1:c.491_493del (GOSR2) | ENSP00000491785.1:p.Lys164del | |
| ENST00000638216.1:c.437_439del (GOSR2) | ENSP00000491961.1:p.Lys146del | |
| ENST00000638219.1:c.491_493del (GOSR2) | ENSP00000491399.1:p.Lys164del | |
| ENST00000638374.1:c.134_136del (GOSR2) | ENSP00000492139.1:p.Lys45del | |
| ENST00000638468.1:c.244_246del (GOSR2) | ||
| ENST00000638579.1:c.491_493del (GOSR2) | ENSP00000491266.1:p.Lys164del | |
| ENST00000638634.1:c.347_349del (GOSR2) | ENSP00000491946.1:p.Lys116del | |
| ENST00000638697.1:c.350_352del (GOSR2) | ENSP00000492360.1:p.Lys117del | |
| ENST00000638838.1:c.488_490del (GOSR2) | ENSP00000492524.1:p.Lys163del | |
| ENST00000638892.1:c.-20_-18del (GOSR2) | ENSP00000492607.1:n.-20_-18del | |
| ENST00000639066.1:n.383_385del (GOSR2) | ||
| ENST00000639199.1:c.350_352del (GOSR2) | ENSP00000491396.1:p.Lys117del | |
| ENST00000639365.1:c.491_493del (GOSR2) | ENSP00000491253.1:p.Lys164del | |
| ENST00000639388.1:c.437_439del (GOSR2) | ENSP00000492544.1:p.Lys146del | |
| ENST00000639713.1:c.362_364del (GOSR2) | ENSP00000491100.1:p.Lys121del | |
| ENST00000639822.1:n.383_385del | ||
| ENST00000639985.1:c.350_352del (GOSR2) | ENSP00000492396.1:p.Lys117del | |
| ENST00000640051.2:c.491_493del (GOSR2) MANE Select | ENSP00000492751.1:p.Lys164del | |
| ENST00000640068.1:c.296_298del (GOSR2) | ENSP00000491682.1:p.Lys99del | |
| ENST00000640138.1:c.134_136del (GOSR2) | ENSP00000492565.1:p.Lys45del | |
| ENST00000640358.1:c.491_493del (GOSR2) | ENSP00000491135.1:p.Lys164del | |
| ENST00000640443.1:c.437_439del (GOSR2) | ENSP00000492548.1:p.Lys146del | |
| ENST00000640495.1:c.134_136del (GOSR2) | ENSP00000491859.1:p.Lys45del | |
| ENST00000640608.1:c.350_352del (GOSR2) | ENSP00000491979.1:p.Lys117del | |
| ENST00000640711.1:c.157_159del (GOSR2) | ENSP00000491361.1:p.Arg53del | |
| ENST00000640723.1:c.430_432del (GOSR2) | ||
| ENST00000640792.1:c.491_493del (GOSR2) | ENSP00000492736.1:p.Lys164del | |
| ENST00000640866.1:c.8_10del (GOSR2) | ENSP00000491863.1:p.Lys3del | |
| ENST00000640871.1:c.291_293del (GOSR2) | ENSP00000492275.1:p.Glu97del | |
| ENST00000225567.8:c.491_493del (GOSR2) | ENSP00000225567.4:p.Lys164del | |
| ENST00000393456.6:c.491_493del (GOSR2) | ENSP00000377101.2:p.Lys164del | |
| ENST00000570879.1:c.484_486del (GOSR2) | ||
| ENST00000571841.1:c.491_493del | ENSP00000461460.1:p.Lys164del | |
| ENST00000572403.5:c.296_298del (GOSR2) | ENSP00000460760.1:p.Lys99del | |
| ENST00000573224.1:c.14_16del (GOSR2) | ENSP00000461784.1:p.Lys5del | |
| ENST00000576910.6:c.350_352del (GOSR2) | ENSP00000461673.1:p.Lys117del | |
| NM_004287.3:c.491_493del (GOSR2) | NP_004278.2:p.Lys164del | |
| NM_054022.2:c.491_493del (GOSR2) | NP_473363.1:p.Lys164del | |
| XM_005257843.2:c.491_493del (GOSR2) | XP_005257900.1:p.Lys164del | |
| XM_005257844.2:c.350_352del (GOSR2) | XP_005257901.1:p.Lys117del | |
| XM_005257845.2:c.296_298del (GOSR2) | XP_005257902.1:p.Lys99del | |
| XM_006722190.2:c.491_493del (GOSR2) | XP_006722253.1:p.Lys164del | |
| XM_011525497.1:c.491_493del (GOSR2) | XP_011523799.1:p.Lys164del | |
| XM_011525498.1:c.437_439del (GOSR2) | XP_011523800.1:p.Lys146del | |
| XM_011525499.1:c.350_352del (GOSR2) | XP_011523801.1:p.Lys117del | |
| XM_011525500.1:c.491_493del (GOSR2) | XP_011523802.1:p.Lys164del | |
| XM_011525501.1:c.491_493del (GOSR2) | XP_011523803.1:p.Lys164del | |
| XM_011525502.1:c.491_493del (GOSR2) | XP_011523804.1:p.Lys164del | |
| XM_011525503.1:c.350_352del (GOSR2) | XP_011523805.1:p.Lys117del | |
| XR_934613.1:n.570_572del (GOSR2) | ||
| XR_934614.1:n.570_572del (GOSR2) | ||
| XR_934615.1:n.570_572del (GOSR2) | ||
| XR_934616.1:n.570_572del (GOSR2) | ||
| XR_934617.1:n.570_572del (GOSR2) | ||
| XR_934618.1:n.570_572del (GOSR2) | ||
| XR_934619.1:n.570_572del (GOSR2) | ||
| XR_934620.1:n.570_572del (GOSR2) | ||
| XR_934621.1:n.783_785del (GOSR2) | ||
| NM_001321133.1:c.491_493del (GOSR2) | NP_001308062.1:p.Lys164del | |
| NM_001321134.1:c.296_298del (GOSR2) | NP_001308063.1:p.Lys99del | |
| NM_001330252.1:c.350_352del (GOSR2) | NP_001317181.1:p.Lys117del | |
| NM_001353114.1:c.488_490del (GOSR2) | NP_001340043.1:p.Lys163del | |
| NM_001353115.1:c.347_349del (GOSR2) | NP_001340044.1:p.Lys116del | |
| NM_001353116.1:c.347_349del (GOSR2) | NP_001340045.1:p.Lys116del | |
| NM_001363851.1:c.437_439del (GOSR2) | NP_001350780.1:p.Lys146del | |
| NM_004287.4:c.491_493del (GOSR2) | NP_004278.2:p.Lys164del | |
| NM_054022.3:c.491_493del (GOSR2) | NP_473363.1:p.Lys164del | |
| NR_148349.1:n.567_569del (GOSR2) | ||
| NR_148350.1:n.426_428del (GOSR2) | ||
| NR_148351.1:n.426_428del (GOSR2) | ||
| XM_006722190.4:c.491_493del (GOSR2) | XP_006722253.1:p.Lys164del | |
| XM_011525501.3:c.491_493del (GOSR2) | XP_011523803.1:p.Lys164del | |
| XM_011525502.3:c.491_493del (GOSR2) | XP_011523804.1:p.Lys164del | |
| XM_017025378.1:c.488_490del (GOSR2) | XP_016880867.1:p.Lys163del | |
| XM_017025379.1:c.437_439del (GOSR2) | XP_016880868.1:p.Lys146del | |
| XM_017025380.1:c.437_439del (GOSR2) | XP_016880869.1:p.Lys146del | |
| XM_017025381.1:c.434_436del (GOSR2) | XP_016880870.1:p.Lys145del | |
| XM_017025382.1:c.434_436del (GOSR2) | XP_016880871.1:p.Lys145del | |
| XM_017025383.2:c.491_493del (GOSR2) | XP_016880872.1:p.Lys164del | |
| XM_017025386.1:c.350_352del (GOSR2) | XP_016880875.1:p.Lys117del | |
| XM_017025387.1:c.347_349del (GOSR2) | XP_016880876.1:p.Lys116del | |
| XM_017025389.1:c.437_439del (GOSR2) | XP_016880878.1:p.Lys146del | |
| XM_017025392.1:c.350_352del (GOSR2) | XP_016880881.1:p.Lys117del | |
| XM_017025394.1:c.296_298del (GOSR2) | XP_016880883.1:p.Lys99del | |
| XM_017025395.1:c.296_298del (GOSR2) | XP_016880884.1:p.Lys99del | |
| XM_024450773.1:c.4810-110444_4810-110442del (LRRC37A2) | XP_024306541.1:n.4810-110444_4810-110442del | |
| XR_001752696.2:n.551_553del (GOSR2) | ||
| XR_002958091.1:n.551_553del (GOSR2) | ||
| XR_002958092.1:n.551_553del (GOSR2) | ||
| XR_002958093.1:n.926_928del (GOSR2) | ||
| XR_934616.3:n.551_553del (GOSR2) | ||
| XR_934619.3:n.551_553del (GOSR2) | ||
| NM_001321133.2:c.491_493del (GOSR2) | NP_001308062.1:p.Lys164del | |
| NM_001353116.2:c.347_349del (GOSR2) | NP_001340045.1:p.Lys116del | |
| NM_004287.5:c.491_493del (GOSR2) MANE Select | NP_004278.2:p.Lys164del | |
| NM_054022.4:c.491_493del (GOSR2) | NP_473363.1:p.Lys164del | |
| NR_148349.2:n.524_526del (GOSR2) | ||
| NR_148350.2:n.383_385del (GOSR2) | ||
| NR_148351.2:n.383_385del (GOSR2) | ||
| NM_001321134.2:c.296_298del (GOSR2) | NP_001308063.1:p.Lys99del | |
| NM_001330252.2:c.350_352del (GOSR2) | NP_001317181.1:p.Lys117del | |
| NM_001353114.2:c.488_490del (GOSR2) | NP_001340043.1:p.Lys163del | |
| NM_001353115.2:c.347_349del (GOSR2) | NP_001340044.1:p.Lys116del | |
| NM_001363851.2:c.437_439del (GOSR2) | NP_001350780.1:p.Lys146del |