Linked Data
ClinVar Variation Id:
341174
ClinVar RCV Id:
RCV000273972
dbSNP Id:
rs755969033
gnomAD v2:
22-30094400-GGCCCAA-G
gnomAD v3:
22-29698411-GGCCCAA-G
gnomAD v4:
22-29698411-GGCCCAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29698415_29698420del , CM000684.2:g.29698415_29698420del | GRCh38 |
| NC_000022.10:g.30094404_30094409del , CM000684.1:g.30094404_30094409del | GRCh37 |
| NC_000022.9:g.28424404_28424409del | NCBI36 |
| NG_009057.1:g.99860_99865del , LRG_511:g.99860_99865del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338641.10:c.*3613_*3618del MANE Select | ENSP00000344666.5:n.*3613_*3618del | |
| ENST00000672896.1:c.*3673_*3678del | ENSP00000500117.1:n.*3673_*3678del | |
| ENST00000338641.8:c.*3613_*3618del | ENSP00000344666.4:n.*3613_*3618del | |
| ENST00000361452.8:c.*3673_*3678del | ENSP00000354897.4:n.*3673_*3678del | |
| ENST00000413209.6:c.*3613_*3618del | ENSP00000409921.2:n.*3613_*3618del | |
| NM_000268.3:c.*3613_*3618del , LRG_511t1:c.*3613_*3618del | NP_000259.1:n.*3613_*3618del | |
| NM_016418.5:c.*3673_*3678del , LRG_511t2:c.*3673_*3678del | NP_057502.2:n.*3673_*3678del | |
| NM_181828.2:c.*3673_*3678del | NP_861966.1:n.*3673_*3678del | |
| NM_181829.2:c.*3673_*3678del | NP_861967.1:n.*3673_*3678del | |
| NM_181830.2:c.*3673_*3678del | NP_861968.1:n.*3673_*3678del | |
| NM_181832.2:c.*3688_*3693del | NP_861970.1:n.*3688_*3693del | |
| NM_181833.2:c.*3613_*3618del | NP_861971.1:n.*3613_*3618del | |
| NR_156186.1:n.5960_5965del | ||
| XM_017028810.1:c.*3673_*3678del | XP_016884299.1:n.*3673_*3678del | |
| NM_000268.4:c.*3613_*3618del MANE Select | NP_000259.1:n.*3613_*3618del | |
| NM_181828.3:c.*3673_*3678del | NP_861966.1:n.*3673_*3678del | |
| NM_181829.3:c.*3673_*3678del | NP_861967.1:n.*3673_*3678del | |
| NM_181830.3:c.*3673_*3678del | NP_861968.1:n.*3673_*3678del | |
| NM_181832.3:c.*3688_*3693del | NP_861970.1:n.*3688_*3693del | |
| NR_156186.2:n.5883_5888del | ||
| NM_181833.3:c.*3613_*3618del | NP_861971.1:n.*3613_*3618del |