Linked Data
ClinVar Variation Id:
204593
ClinVar RCV Id:
RCV000186590
RCV000255927
RCV000612898
RCV000652578
RCV001073225
RCV001003979
RCV001283811
RCV001193558
RCV003401022
dbSNP Id:
rs534542684
ExAC:
14:58899156 AG / A
gnomAD v2:
14-58899156-AG-A
gnomAD v3:
14-58432438-AG-A
gnomAD v4:
14-58432438-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58432439del , CM000676.2:g.58432439del | GRCh38 |
| NC_000014.8:g.58899157del , CM000676.1:g.58899157del | GRCh37 |
| NC_000014.7:g.57968910del | NCBI36 |
| NG_051335.2:g.10055del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619722.5:c.137del | ENSP00000481936.1:p.Arg46LysfsTer4 | |
| ENST00000650845.1:n.938del | ||
| ENST00000650904.1:c.392del | ENSP00000498606.1:p.Arg131LysfsTer4 | |
| ENST00000651937.1:c.347del | ENSP00000498785.1:p.Arg116LysfsTer4 | |
| ENST00000652326.2:c.392del MANE Select | ENSP00000498929.1:p.Arg131LysfsTer4 | |
| ENST00000652732.1:c.137del | ENSP00000498799.1:p.Arg46LysfsTer4 | |
| ENST00000674802.1:n.624del | ||
| ENST00000261244.9:c.392del | ENSP00000261244.5:p.Arg131LysfsTer4 | |
| ENST00000354386.10:c.428del | ENSP00000346359.6:p.Arg143LysfsTer4 | |
| ENST00000423743.7:c.137del | ENSP00000399427.3:p.Arg46LysfsTer4 | |
| ENST00000554463.5:c.137del | ENSP00000451831.1:p.Arg46LysfsTer4 | |
| ENST00000555203.5:c.137del | ENSP00000452536.1:p.Arg46LysfsTer4 | |
| ENST00000555833.5:c.137del | ENSP00000450855.1:p.Arg46LysfsTer4 | |
| ENST00000556134.5:c.137del | ENSP00000452351.2:p.Arg46LysfsTer4 | |
| ENST00000557192.1:n.285del | ||
| ENST00000619416.4:c.347del | ENSP00000478083.1:p.Arg116LysfsTer4 | |
| ENST00000619722.4:c.137del | ENSP00000481936.1:p.Arg46LysfsTer4 | |
| NM_001244189.1:c.428del | NP_001231118.1:p.Arg143LysfsTer4 | |
| NM_001244190.1:c.347del | NP_001231119.1:p.Arg116LysfsTer4 | |
| NM_001244191.1:c.137del | NP_001231120.1:p.Arg46LysfsTer4 | |
| NM_001244192.1:c.137del | NP_001231121.1:p.Arg46LysfsTer4 | |
| NM_014749.3:c.392del | NP_055564.3:p.Arg131LysfsTer4 | |
| NM_001329943.2:c.392del | NP_001316872.1:p.Arg131LysfsTer4 | |
| NM_001329944.1:c.392del | NP_001316873.1:p.Arg131LysfsTer4 | |
| NM_001329945.1:c.137del | NP_001316874.1:p.Arg46LysfsTer4 | |
| NM_001329946.1:c.392del | NP_001316875.1:p.Arg131LysfsTer4 | |
| NM_001329947.1:c.392del | NP_001316876.1:p.Arg131LysfsTer4 | |
| NM_001364700.1:c.137del | NP_001351629.1:p.Arg46LysfsTer4 | |
| NM_001364701.1:c.137del | NP_001351630.1:p.Arg46LysfsTer4 | |
| NM_014749.4:c.392del | NP_055564.3:p.Arg131LysfsTer4 | |
| XM_024449779.1:c.392del | XP_024305547.1:p.Arg131LysfsTer4 | |
| XM_024449780.1:c.392del | XP_024305548.1:p.Arg131LysfsTer4 | |
| XM_024449781.1:c.392del | XP_024305549.1:p.Arg131LysfsTer4 | |
| XM_024449782.1:c.137del | XP_024305550.1:p.Arg46LysfsTer4 | |
| XM_024449783.1:c.137del | XP_024305551.1:p.Arg46LysfsTer4 | |
| XM_024449784.1:c.137del | XP_024305552.1:p.Arg46LysfsTer4 | |
| XM_024449785.1:c.137del | XP_024305553.1:p.Arg46LysfsTer4 | |
| XM_024449791.1:c.392del | XP_024305559.1:p.Arg131LysfsTer4 | |
| NM_001244189.2:c.428del | NP_001231118.1:p.Arg143LysfsTer4 | |
| NM_001244190.2:c.347del | NP_001231119.1:p.Arg116LysfsTer4 | |
| NM_001244192.2:c.137del | NP_001231121.1:p.Arg46LysfsTer4 | |
| NM_001329943.3:c.392del MANE Select | NP_001316872.1:p.Arg131LysfsTer4 | |
| NM_001329944.2:c.392del | NP_001316873.1:p.Arg131LysfsTer4 | |
| NM_001329945.2:c.137del | NP_001316874.1:p.Arg46LysfsTer4 | |
| NM_001329946.2:c.392del | NP_001316875.1:p.Arg131LysfsTer4 | |
| NM_001329947.2:c.392del | NP_001316876.1:p.Arg131LysfsTer4 | |
| NM_001364701.2:c.137del | NP_001351630.1:p.Arg46LysfsTer4 | |
| NM_014749.5:c.392del | NP_055564.3:p.Arg131LysfsTer4 | |
| NM_001244191.2:c.137del | NP_001231120.1:p.Arg46LysfsTer4 |