Linked Data
ClinVar Variation Id:
419058
ClinVar RCV Id:
RCV000481910
dbSNP Id:
rs1064793614
gnomAD v2:
15-91557660-CA-C
gnomAD v4:
15-91014430-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91014432del , CM000677.2:g.91014432del | GRCh38 |
| NC_000015.9:g.91557662del , CM000677.1:g.91557662del | GRCh37 |
| NC_000015.8:g.89358666del | NCBI36 |
| NG_012162.1:g.13173del , LRG_884:g.13173del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333371.8:c.242del MANE Select | ENSP00000327650.4:p.Leu81CysfsTer? | |
| ENST00000643536.1:c.242del | ENSP00000494429.1:p.Leu81CysfsTer? | |
| ENST00000647331.1:c.242del | ENSP00000493953.1:p.Leu81CysfsTer? | |
| ENST00000333371.7:c.242del | ENSP00000327650.3:p.Leu81CysfsTer? | |
| ENST00000535906.1:c.161del | ENSP00000444053.1:p.Leu54CysfsTer? | |
| ENST00000554264.5:n.165del | ||
| ENST00000556096.6:n.636del | ||
| ENST00000557358.1:n.446del | ||
| ENST00000574755.5:c.180del | ENSP00000460413.1:p.Ile60MetfsTer? | |
| NM_001289148.1:c.161del | NP_001276077.1:p.Leu54CysfsTer? | |
| NM_001289149.1:c.-32del | NP_001276078.1:n.-32del | |
| NM_018668.4:c.242del , LRG_884t1:c.242del | NP_061138.3:p.Leu81CysfsTer? | |
| XM_005254884.2:c.242del | XP_005254941.1:p.Leu81CysfsTer? | |
| XM_005254887.1:c.-32del | XP_005254944.1:n.-32del | |
| XM_005254888.2:c.242del | XP_005254945.1:p.Leu81CysfsTer? | |
| XM_011521448.1:c.-32del | XP_011519750.1:n.-32del | |
| XM_017022075.2:c.-120del | XP_016877564.1:n.-120del | |
| XM_017022076.1:c.-120del | XP_016877565.1:n.-120del | |
| XR_001751213.2:n.578del | ||
| NM_018668.5:c.242del MANE Select | NP_061138.3:p.Leu81CysfsTer? |