Linked Data
ClinVar Variation Id:
92983
ClinVar RCV Id:
RCV003466974
dbSNP Id:
rs398123385
gnomAD v3:
6-129465265-ACT-A
gnomAD v4:
6-129465265-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129465268_129465269del , CM000668.2:g.129465268_129465269del | GRCh38 |
| NC_000006.11:g.129786413_129786414del , CM000668.1:g.129786413_129786414del | GRCh37 |
| NC_000006.10:g.129828106_129828107del | NCBI36 |
| NG_008678.1:g.587128_587129del , LRG_409:g.587128_587129del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617695.5:c.7279_7280del | ENSP00000481744.2:p.Leu2427ValfsTer17 | |
| ENST00000618192.5:c.7543_7544del | ENSP00000480802.2:p.Leu2515ValfsTer17 | |
| ENST00000684985.1:n.910_911del | ||
| ENST00000421865.3:c.7279_7280del MANE Select | ENSP00000400365.2:p.Leu2427ValfsTer17 | |
| ENST00000421865.2:c.7279_7280del | ENSP00000400365.2:p.Leu2427ValfsTer17 | |
| ENST00000617695.4:c.7279_7280del | ENSP00000481744.1:p.Leu2427ValfsTer17 | |
| ENST00000618192.4:c.7276_7277del | ENSP00000480802.1:p.Leu2426ValfsTer17 | |
| NM_000426.3:c.7279_7280del , LRG_409t1:c.7279_7280del | NP_000417.2:p.Leu2427ValfsTer17 | |
| NM_001079823.1:c.7279_7280del | NP_001073291.1:p.Leu2427ValfsTer17 | |
| XM_005266981.2:c.7543_7544del | XP_005267038.1:p.Leu2515ValfsTer17 | |
| XM_005266982.2:c.7543_7544del | XP_005267039.1:p.Leu2515ValfsTer17 | |
| XM_011535820.1:c.7537_7538del | XP_011534122.1:p.Leu2513ValfsTer17 | |
| XM_005266981.3:c.7543_7544del | XP_005267038.1:p.Leu2515ValfsTer17 | |
| XM_005266982.3:c.7543_7544del | XP_005267039.1:p.Leu2515ValfsTer17 | |
| XM_011535820.2:c.7537_7538del | XP_011534122.1:p.Leu2513ValfsTer17 | |
| XM_017010851.2:c.7549_7550del | XP_016866340.1:p.Leu2517ValfsTer17 | |
| XM_017010852.1:c.5674_5675del | XP_016866341.1:p.Leu1892ValfsTer17 | |
| NM_000426.4:c.7279_7280del MANE Select | NP_000417.3:p.Leu2427ValfsTer17 | |
| NM_001079823.2:c.7279_7280del | NP_001073291.2:p.Leu2427ValfsTer17 |