Linked Data
dbSNP Id:
rs1264178798
gnomAD v2:
8-42026955-AAAAG-A
gnomAD v3:
8-42169437-AAAAG-A
gnomAD v4:
8-42169437-AAAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42169447_42169450del , CM000670.2:g.42169447_42169450del | GRCh38 |
| NC_000008.10:g.42026965_42026968del , CM000670.1:g.42026965_42026968del | GRCh37 |
| NC_000008.9:g.42146122_42146125del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396926.8:c.*386_*389del MANE Select | ENSP00000380132.3:n.*386_*389del | |
| ENST00000174653.3:c.*386_*389del | ENSP00000174653.3:n.*386_*389del | |
| ENST00000396926.7:c.*386_*389del | ENSP00000380132.3:n.*386_*389del | |
| ENST00000518421.5:c.*386_*389del | ENSP00000428787.1:n.*386_*389del | |
| ENST00000520689.1:c.371+162_371+165del | ENSP00000429804.1:n.371+162_371+165del | |
| NM_001134296.1:c.*386_*389del | NP_001127768.1:n.*386_*389del | |
| NM_006803.3:c.*386_*389del | NP_006794.1:n.*386_*389del | |
| XM_017012977.2:c.*386_*389del | XP_016868466.1:n.*386_*389del | |
| XR_001745459.2:n.1928_1931del | ||
| NM_006803.4:c.*386_*389del MANE Select | NP_006794.1:n.*386_*389del | |
| NM_001134296.2:c.*386_*389del | NP_001127768.1:n.*386_*389del |