Linked Data
dbSNP Id:
rs1905633475
gnomAD v3:
17-49974157-CCACCACTACCATGGACT-C
gnomAD v4:
17-49974157-CCACCACTACCATGGACT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49974158_49974174del , CM000679.2:g.49974158_49974174del | GRCh38 |
| NC_000017.10:g.48051522_48051538del , CM000679.1:g.48051522_48051538del | GRCh37 |
| NC_000017.9:g.45406521_45406537del | NCBI36 |
| NG_030592.1:g.9961_9977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706528.1:n.1819_1835del | ||
| ENST00000240306.5:c.*215_*231del MANE Select | ENSP00000240306.3:n.*215_*231del | |
| ENST00000240306.4:c.*215_*231del | ENSP00000240306.3:n.*215_*231del | |
| ENST00000411890.3:c.*215_*231del | ENSP00000410622.2:n.*215_*231del | |
| ENST00000611342.1:c.*808_*824del | ENSP00000480366.1:n.*808_*824del | |
| NM_001934.3:c.*215_*231del | NP_001925.2:n.*215_*231del | |
| NM_138281.2:c.*215_*231del | NP_612138.1:n.*215_*231del | |
| XM_011524459.1:c.*215_*231del | XP_011522761.1:n.*215_*231del | |
| XM_017024291.1:c.*215_*231del | XP_016879780.1:n.*215_*231del | |
| NM_138281.3:c.*215_*231del MANE Select | NP_612138.1:n.*215_*231del | |
| NM_001934.4:c.*215_*231del | NP_001925.2:n.*215_*231del |