Linked Data
gnomAD v2:
14-34269625-C-CG
gnomAD v4:
14-33800419-C-CG
MyVariant Identifiers:
chr14:g.34269625_34269626insG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800425dup , CM000676.2:g.33800425dup | GRCh38 |
| NC_000014.8:g.34269631dup , CM000676.1:g.34269631dup | GRCh37 |
| NC_000014.7:g.33339382dup | NCBI36 |
| NG_013036.1:g.866173dup | |
| NG_013036.2:g.866173dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.2118dup MANE Select | ENSP00000348460.4:p.Leu707AlafsTer? | |
| ENST00000551634.6:c.2127dup | ENSP00000448373.2:p.Leu710AlafsTer? | |
| ENST00000680362.1:c.2018dup | ||
| ENST00000681323.1:c.793+2844dup | ||
| ENST00000346562.6:c.2022dup | ENSP00000319610.5:p.Leu675AlafsTer? | |
| ENST00000356141.8:c.2118dup | ENSP00000348460.4:p.Leu707AlafsTer? | |
| ENST00000357798.9:c.2079dup | ENSP00000350446.5:p.Leu694AlafsTer? | |
| ENST00000548645.5:c.2028dup | ENSP00000448916.1:p.Leu677AlafsTer? | |
| ENST00000551492.5:c.2133dup | ENSP00000450392.1:p.Leu712AlafsTer? | |
| ENST00000551634.5:c.2040dup | ENSP00000448373.1:p.Leu681AlafsTer? | |
| NM_001164749.1:c.2118dup | NP_001158221.1:p.Leu707AlafsTer? | |
| NM_001165893.1:c.2028dup | NP_001159365.1:p.Leu677AlafsTer? | |
| NM_022123.2:c.2022dup | NP_071406.1:p.Leu675AlafsTer? | |
| NM_173159.2:c.2079dup | NP_775182.1:p.Leu694AlafsTer? | |
| XM_005267991.2:c.2139dup | XP_005268048.1:p.Leu714AlafsTer? | |
| XM_005267992.2:c.2133dup | XP_005268049.1:p.Leu712AlafsTer? | |
| XM_005267993.2:c.2079dup | XP_005268050.1:p.Leu694AlafsTer? | |
| XM_011537067.1:c.2169dup | XP_011535369.1:p.Leu724AlafsTer? | |
| XM_011537068.1:c.2160dup | XP_011535370.1:p.Leu721AlafsTer? | |
| XM_011537069.1:c.2130dup | XP_011535371.1:p.Leu711AlafsTer? | |
| XM_011537070.1:c.2073dup | XP_011535372.1:p.Leu692AlafsTer? | |
| XM_011537071.1:c.2040dup | XP_011535373.1:p.Leu681AlafsTer? | |
| XM_011537072.1:c.2019dup | XP_011535374.1:p.Leu674AlafsTer? | |
| XM_011537073.1:c.1812dup | XP_011535375.1:p.Leu605AlafsTer? | |
| XM_011537074.1:c.1812dup | XP_011535376.1:p.Leu605AlafsTer? | |
| XM_005267991.3:c.2226dup | XP_005268048.2:p.Leu743AlafsTer? | |
| XM_005267992.3:c.2220dup | XP_005268049.2:p.Leu741AlafsTer? | |
| XM_011537067.2:c.2169dup | XP_011535369.1:p.Leu724AlafsTer? | |
| XM_011537069.2:c.2217dup | XP_011535371.2:p.Leu740AlafsTer? | |
| XM_011537070.2:c.2073dup | XP_011535372.1:p.Leu692AlafsTer? | |
| XM_011537071.2:c.2127dup | XP_011535373.2:p.Leu710AlafsTer? | |
| XM_011537072.2:c.2019dup | XP_011535374.1:p.Leu674AlafsTer? | |
| XM_017021582.1:c.2277dup | XP_016877071.1:p.Leu760AlafsTer? | |
| XM_017021583.1:c.2268dup | XP_016877072.1:p.Leu757AlafsTer? | |
| XM_017021584.1:c.2187dup | XP_016877073.1:p.Leu730AlafsTer? | |
| XM_017021585.1:c.2136dup | XP_016877074.1:p.Leu713AlafsTer? | |
| XM_017021586.1:c.1812dup | XP_016877075.1:p.Leu605AlafsTer? | |
| XM_017021587.1:c.1812dup | XP_016877076.1:p.Leu605AlafsTer? | |
| XM_017021588.1:c.1812dup | XP_016877077.1:p.Leu605AlafsTer? | |
| NM_001164749.2:c.2118dup MANE Select | NP_001158221.1:p.Leu707AlafsTer? | |
| NM_001165893.2:c.2028dup | NP_001159365.1:p.Leu677AlafsTer? | |
| NM_022123.3:c.2022dup | NP_071406.1:p.Leu675AlafsTer? | |
| NM_173159.3:c.2079dup | NP_775182.1:p.Leu694AlafsTer? | |
| NM_001394988.1:c.2073dup | NP_001381917.1:p.Leu692AlafsTer? | |
| NM_001394989.1:c.2019dup | NP_001381918.1:p.Leu674AlafsTer? |