Linked Data
dbSNP Id:
rs1012269243
gnomAD v2:
20-4957621-CA-C
gnomAD v3:
20-4976975-CA-C
gnomAD v4:
20-4976975-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4976985del , CM000682.2:g.4976985del | GRCh38 |
| NC_000020.10:g.4957631del , CM000682.1:g.4957631del | GRCh37 |
| NC_000020.9:g.4905631del | NCBI36 |
| NG_029959.1:g.29524del | |
| NG_029959.2:g.38318del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338244.6:c.-281-6057del MANE Select | ENSP00000344322.1:n.-281-6057del | |
| ENST00000338244.5:c.-281-6057del | ENSP00000344322.1:n.-281-6057del | |
| ENST00000379333.5:c.-281-6057del | ENSP00000368637.1:n.-281-6057del | |
| ENST00000468355.5:n.90-6061del | ||
| NM_005116.5:c.-281-6057del | NP_005107.4:n.-281-6057del | |
| NM_203327.1:c.-281-6057del | NP_976072.1:n.-281-6057del | |
| XM_011529414.1:c.-277-6061del | XP_011527716.1:n.-277-6061del | |
| XM_011529417.1:c.-155+24430del | XP_011527719.1:n.-155+24430del | |
| NM_005116.6:c.-281-6057del MANE Select | NP_005107.4:n.-281-6057del | |
| NM_203327.2:c.-281-6057del | NP_976072.1:n.-281-6057del |