Linked Data
dbSNP Id:
rs776528700
gnomAD v2:
14-34269613-GGGTGGC-G
gnomAD v3:
14-33800407-GGGTGGC-G
gnomAD v4:
14-33800407-GGGTGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800416_33800421del , CM000676.2:g.33800416_33800421del | GRCh38 |
| NC_000014.8:g.34269622_34269627del , CM000676.1:g.34269622_34269627del | GRCh37 |
| NC_000014.7:g.33339373_33339378del | NCBI36 |
| NG_013036.1:g.866164_866169del | |
| NG_013036.2:g.866164_866169del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2109_2114del MANE Select | ENSP00000348460.4:p.Gly704_Gly705del | |
| ENST00000551634.6:c.2118_2123del | ENSP00000448373.2:p.Gly707_Gly708del | |
| ENST00000680362.1:c.2009_2014del | ||
| ENST00000681323.1:c.793+2835_793+2840del | ||
| ENST00000346562.6:c.2013_2018del | ENSP00000319610.5:p.Gly672_Gly673del | |
| ENST00000356141.8:c.2109_2114del | ENSP00000348460.4:p.Gly704_Gly705del | |
| ENST00000357798.9:c.2070_2075del | ENSP00000350446.5:p.Gly691_Gly692del | |
| ENST00000548645.5:c.2019_2024del | ENSP00000448916.1:p.Gly674_Gly675del | |
| ENST00000551492.5:c.2124_2129del | ENSP00000450392.1:p.Gly709_Gly710del | |
| ENST00000551634.5:c.2031_2036del | ENSP00000448373.1:p.Gly678_Gly679del | |
| NM_001164749.1:c.2109_2114del | NP_001158221.1:p.Gly704_Gly705del | |
| NM_001165893.1:c.2019_2024del | NP_001159365.1:p.Gly674_Gly675del | |
| NM_022123.2:c.2013_2018del | NP_071406.1:p.Gly672_Gly673del | |
| NM_173159.2:c.2070_2075del | NP_775182.1:p.Gly691_Gly692del | |
| XM_005267991.2:c.2130_2135del | XP_005268048.1:p.Gly711_Gly712del | |
| XM_005267992.2:c.2124_2129del | XP_005268049.1:p.Gly709_Gly710del | |
| XM_005267993.2:c.2070_2075del | XP_005268050.1:p.Gly691_Gly692del | |
| XM_011537067.1:c.2160_2165del | XP_011535369.1:p.Gly721_Gly722del | |
| XM_011537068.1:c.2151_2156del | XP_011535370.1:p.Gly718_Gly719del | |
| XM_011537069.1:c.2121_2126del | XP_011535371.1:p.Gly708_Gly709del | |
| XM_011537070.1:c.2064_2069del | XP_011535372.1:p.Gly689_Gly690del | |
| XM_011537071.1:c.2031_2036del | XP_011535373.1:p.Gly678_Gly679del | |
| XM_011537072.1:c.2010_2015del | XP_011535374.1:p.Gly671_Gly672del | |
| XM_011537073.1:c.1803_1808del | XP_011535375.1:p.Gly602_Gly603del | |
| XM_011537074.1:c.1803_1808del | XP_011535376.1:p.Gly602_Gly603del | |
| XM_005267991.3:c.2217_2222del | XP_005268048.2:p.Gly740_Gly741del | |
| XM_005267992.3:c.2211_2216del | XP_005268049.2:p.Gly738_Gly739del | |
| XM_011537067.2:c.2160_2165del | XP_011535369.1:p.Gly721_Gly722del | |
| XM_011537069.2:c.2208_2213del | XP_011535371.2:p.Gly737_Gly738del | |
| XM_011537070.2:c.2064_2069del | XP_011535372.1:p.Gly689_Gly690del | |
| XM_011537071.2:c.2118_2123del | XP_011535373.2:p.Gly707_Gly708del | |
| XM_011537072.2:c.2010_2015del | XP_011535374.1:p.Gly671_Gly672del | |
| XM_017021582.1:c.2268_2273del | XP_016877071.1:p.Gly757_Gly758del | |
| XM_017021583.1:c.2259_2264del | XP_016877072.1:p.Gly754_Gly755del | |
| XM_017021584.1:c.2178_2183del | XP_016877073.1:p.Gly727_Gly728del | |
| XM_017021585.1:c.2127_2132del | XP_016877074.1:p.Gly710_Gly711del | |
| XM_017021586.1:c.1803_1808del | XP_016877075.1:p.Gly602_Gly603del | |
| XM_017021587.1:c.1803_1808del | XP_016877076.1:p.Gly602_Gly603del | |
| XM_017021588.1:c.1803_1808del | XP_016877077.1:p.Gly602_Gly603del | |
| NM_001164749.2:c.2109_2114del MANE Select | NP_001158221.1:p.Gly704_Gly705del | |
| NM_001165893.2:c.2019_2024del | NP_001159365.1:p.Gly674_Gly675del | |
| NM_022123.3:c.2013_2018del | NP_071406.1:p.Gly672_Gly673del | |
| NM_173159.3:c.2070_2075del | NP_775182.1:p.Gly691_Gly692del | |
| NM_001394988.1:c.2064_2069del | NP_001381917.1:p.Gly689_Gly690del | |
| NM_001394989.1:c.2010_2015del | NP_001381918.1:p.Gly671_Gly672del |