Linked Data
dbSNP Id:
rs2063664678
gnomAD v3:
14-33800408-GGTGGCGGTGGCGGGGGGCTGCAC-G
gnomAD v4:
14-33800408-GGTGGCGGTGGCGGGGGGCTGCAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800414_33800436del , CM000676.2:g.33800414_33800436del | GRCh38 |
| NC_000014.8:g.34269620_34269642del , CM000676.1:g.34269620_34269642del | GRCh37 |
| NC_000014.7:g.33339371_33339393del | NCBI36 |
| NG_013036.1:g.866162_866184del | |
| NG_013036.2:g.866162_866184del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2107_2129del MANE Select | ENSP00000348460.4:p.Gly703HisfsTer? | |
| ENST00000551634.6:c.2116_2138del | ENSP00000448373.2:p.Gly706HisfsTer? | |
| ENST00000680362.1:c.2007_2029del | ||
| ENST00000681323.1:c.793+2833_793+2855del | ||
| ENST00000346562.6:c.2011_2033del | ENSP00000319610.5:p.Gly671HisfsTer? | |
| ENST00000356141.8:c.2107_2129del | ENSP00000348460.4:p.Gly703HisfsTer? | |
| ENST00000357798.9:c.2068_2090del | ENSP00000350446.5:p.Gly690HisfsTer? | |
| ENST00000548645.5:c.2017_2039del | ENSP00000448916.1:p.Gly673HisfsTer? | |
| ENST00000551492.5:c.2122_2144del | ENSP00000450392.1:p.Gly708HisfsTer? | |
| ENST00000551634.5:c.2029_2051del | ENSP00000448373.1:p.Gly677HisfsTer? | |
| NM_001164749.1:c.2107_2129del | NP_001158221.1:p.Gly703HisfsTer? | |
| NM_001165893.1:c.2017_2039del | NP_001159365.1:p.Gly673HisfsTer? | |
| NM_022123.2:c.2011_2033del | NP_071406.1:p.Gly671HisfsTer? | |
| NM_173159.2:c.2068_2090del | NP_775182.1:p.Gly690HisfsTer? | |
| XM_005267991.2:c.2128_2150del | XP_005268048.1:p.Gly710HisfsTer? | |
| XM_005267992.2:c.2122_2144del | XP_005268049.1:p.Gly708HisfsTer? | |
| XM_005267993.2:c.2068_2090del | XP_005268050.1:p.Gly690HisfsTer? | |
| XM_011537067.1:c.2158_2180del | XP_011535369.1:p.Gly720HisfsTer? | |
| XM_011537068.1:c.2149_2171del | XP_011535370.1:p.Gly717HisfsTer? | |
| XM_011537069.1:c.2119_2141del | XP_011535371.1:p.Gly707HisfsTer? | |
| XM_011537070.1:c.2062_2084del | XP_011535372.1:p.Gly688HisfsTer? | |
| XM_011537071.1:c.2029_2051del | XP_011535373.1:p.Gly677HisfsTer? | |
| XM_011537072.1:c.2008_2030del | XP_011535374.1:p.Gly670HisfsTer? | |
| XM_011537073.1:c.1801_1823del | XP_011535375.1:p.Gly601HisfsTer? | |
| XM_011537074.1:c.1801_1823del | XP_011535376.1:p.Gly601HisfsTer? | |
| XM_005267991.3:c.2215_2237del | XP_005268048.2:p.Gly739HisfsTer? | |
| XM_005267992.3:c.2209_2231del | XP_005268049.2:p.Gly737HisfsTer? | |
| XM_011537067.2:c.2158_2180del | XP_011535369.1:p.Gly720HisfsTer? | |
| XM_011537069.2:c.2206_2228del | XP_011535371.2:p.Gly736HisfsTer? | |
| XM_011537070.2:c.2062_2084del | XP_011535372.1:p.Gly688HisfsTer? | |
| XM_011537071.2:c.2116_2138del | XP_011535373.2:p.Gly706HisfsTer? | |
| XM_011537072.2:c.2008_2030del | XP_011535374.1:p.Gly670HisfsTer? | |
| XM_017021582.1:c.2266_2288del | XP_016877071.1:p.Gly756HisfsTer? | |
| XM_017021583.1:c.2257_2279del | XP_016877072.1:p.Gly753HisfsTer? | |
| XM_017021584.1:c.2176_2198del | XP_016877073.1:p.Gly726HisfsTer? | |
| XM_017021585.1:c.2125_2147del | XP_016877074.1:p.Gly709HisfsTer? | |
| XM_017021586.1:c.1801_1823del | XP_016877075.1:p.Gly601HisfsTer? | |
| XM_017021587.1:c.1801_1823del | XP_016877076.1:p.Gly601HisfsTer? | |
| XM_017021588.1:c.1801_1823del | XP_016877077.1:p.Gly601HisfsTer? | |
| NM_001164749.2:c.2107_2129del MANE Select | NP_001158221.1:p.Gly703HisfsTer? | |
| NM_001165893.2:c.2017_2039del | NP_001159365.1:p.Gly673HisfsTer? | |
| NM_022123.3:c.2011_2033del | NP_071406.1:p.Gly671HisfsTer? | |
| NM_173159.3:c.2068_2090del | NP_775182.1:p.Gly690HisfsTer? | |
| NM_001394988.1:c.2062_2084del | NP_001381917.1:p.Gly688HisfsTer? | |
| NM_001394989.1:c.2008_2030del | NP_001381918.1:p.Gly670HisfsTer? |