Linked Data
dbSNP Id:
rs2063664210
gnomAD v3:
14-33800404-TGGGGGTGGCGGTGGCGGG-T
gnomAD v4:
14-33800404-TGGGGGTGGCGGTGGCGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800408_33800425del , CM000676.2:g.33800408_33800425del | GRCh38 |
| NC_000014.8:g.34269614_34269631del , CM000676.1:g.34269614_34269631del | GRCh37 |
| NC_000014.7:g.33339365_33339382del | NCBI36 |
| NG_013036.1:g.866156_866173del | |
| NG_013036.2:g.866156_866173del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356141.9:c.2101_2118del MANE Select | ENSP00000348460.4:p.Gly701_Gly706del | |
| ENST00000551634.6:c.2110_2127del | ENSP00000448373.2:p.Gly704_Gly709del | |
| ENST00000680362.1:c.2001_2018del | ||
| ENST00000681323.1:c.793+2827_793+2844del | ||
| ENST00000346562.6:c.2005_2022del | ENSP00000319610.5:p.Gly669_Gly674del | |
| ENST00000356141.8:c.2101_2118del | ENSP00000348460.4:p.Gly701_Gly706del | |
| ENST00000357798.9:c.2062_2079del | ENSP00000350446.5:p.Gly688_Gly693del | |
| ENST00000548645.5:c.2011_2028del | ENSP00000448916.1:p.Gly671_Gly676del | |
| ENST00000551492.5:c.2116_2133del | ENSP00000450392.1:p.Gly706_Gly711del | |
| ENST00000551634.5:c.2023_2040del | ENSP00000448373.1:p.Gly675_Gly680del | |
| NM_001164749.1:c.2101_2118del | NP_001158221.1:p.Gly701_Gly706del | |
| NM_001165893.1:c.2011_2028del | NP_001159365.1:p.Gly671_Gly676del | |
| NM_022123.2:c.2005_2022del | NP_071406.1:p.Gly669_Gly674del | |
| NM_173159.2:c.2062_2079del | NP_775182.1:p.Gly688_Gly693del | |
| XM_005267991.2:c.2122_2139del | XP_005268048.1:p.Gly708_Gly713del | |
| XM_005267992.2:c.2116_2133del | XP_005268049.1:p.Gly706_Gly711del | |
| XM_005267993.2:c.2062_2079del | XP_005268050.1:p.Gly688_Gly693del | |
| XM_011537067.1:c.2152_2169del | XP_011535369.1:p.Gly718_Gly723del | |
| XM_011537068.1:c.2143_2160del | XP_011535370.1:p.Gly715_Gly720del | |
| XM_011537069.1:c.2113_2130del | XP_011535371.1:p.Gly705_Gly710del | |
| XM_011537070.1:c.2056_2073del | XP_011535372.1:p.Gly686_Gly691del | |
| XM_011537071.1:c.2023_2040del | XP_011535373.1:p.Gly675_Gly680del | |
| XM_011537072.1:c.2002_2019del | XP_011535374.1:p.Gly668_Gly673del | |
| XM_011537073.1:c.1795_1812del | XP_011535375.1:p.Gly599_Gly604del | |
| XM_011537074.1:c.1795_1812del | XP_011535376.1:p.Gly599_Gly604del | |
| XM_005267991.3:c.2209_2226del | XP_005268048.2:p.Gly737_Gly742del | |
| XM_005267992.3:c.2203_2220del | XP_005268049.2:p.Gly735_Gly740del | |
| XM_011537067.2:c.2152_2169del | XP_011535369.1:p.Gly718_Gly723del | |
| XM_011537069.2:c.2200_2217del | XP_011535371.2:p.Gly734_Gly739del | |
| XM_011537070.2:c.2056_2073del | XP_011535372.1:p.Gly686_Gly691del | |
| XM_011537071.2:c.2110_2127del | XP_011535373.2:p.Gly704_Gly709del | |
| XM_011537072.2:c.2002_2019del | XP_011535374.1:p.Gly668_Gly673del | |
| XM_017021582.1:c.2260_2277del | XP_016877071.1:p.Gly754_Gly759del | |
| XM_017021583.1:c.2251_2268del | XP_016877072.1:p.Gly751_Gly756del | |
| XM_017021584.1:c.2170_2187del | XP_016877073.1:p.Gly724_Gly729del | |
| XM_017021585.1:c.2119_2136del | XP_016877074.1:p.Gly707_Gly712del | |
| XM_017021586.1:c.1795_1812del | XP_016877075.1:p.Gly599_Gly604del | |
| XM_017021587.1:c.1795_1812del | XP_016877076.1:p.Gly599_Gly604del | |
| XM_017021588.1:c.1795_1812del | XP_016877077.1:p.Gly599_Gly604del | |
| NM_001164749.2:c.2101_2118del MANE Select | NP_001158221.1:p.Gly701_Gly706del | |
| NM_001165893.2:c.2011_2028del | NP_001159365.1:p.Gly671_Gly676del | |
| NM_022123.3:c.2005_2022del | NP_071406.1:p.Gly669_Gly674del | |
| NM_173159.3:c.2062_2079del | NP_775182.1:p.Gly688_Gly693del | |
| NM_001394988.1:c.2056_2073del | NP_001381917.1:p.Gly686_Gly691del | |
| NM_001394989.1:c.2002_2019del | NP_001381918.1:p.Gly668_Gly673del |