Linked Data
dbSNP Id:
rs769427230
ExAC:
12:116408587 AAAAT / A
gnomAD v2:
12-116408587-AAAAT-A
gnomAD v4:
12-115970782-AAAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115970784_115970787del , CM000674.2:g.115970784_115970787del | GRCh38 |
| NC_000012.11:g.116408589_116408592del , CM000674.1:g.116408589_116408592del | GRCh37 |
| NC_000012.10:g.114892972_114892975del | NCBI36 |
| NG_023366.1:g.311401_311404del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5891-16_5891-13del MANE Select | ENSP00000281928.3:n.5891-16_5891-13del | |
| ENST00000548694.2:n.881-16_881-13del | ||
| ENST00000548784.2:n.2105-16_2105-13del | ||
| ENST00000648379.1:n.4259-16_4259-13del | ||
| ENST00000648737.1:n.5655-16_5655-13del | ||
| ENST00000648825.1:n.4076-16_4076-13del | ||
| ENST00000648916.1:n.3902-16_3902-13del | ||
| ENST00000649607.1:c.4075-16_4075-13del | ||
| ENST00000649775.1:c.2380-16_2380-13del | ||
| ENST00000650226.1:c.5927-16_5927-13del | ENSP00000496981.1:n.5927-16_5927-13del | |
| ENST00000281928.7:c.5891-16_5891-13del | ENSP00000281928.3:n.5891-16_5891-13del | |
| ENST00000548784.1:n.389-16_389-13del | ||
| ENST00000552447.1:c.504-16_504-13del | ||
| NM_015335.4:c.5891-16_5891-13del | NP_056150.1:n.5891-16_5891-13del | |
| XM_011538080.1:c.5927-16_5927-13del | XP_011536382.1:n.5927-16_5927-13del | |
| XM_011538081.1:c.5924-16_5924-13del | XP_011536383.1:n.5924-16_5924-13del | |
| XM_011538082.1:c.5897-16_5897-13del | XP_011536384.1:n.5897-16_5897-13del | |
| XM_011538080.2:c.5927-16_5927-13del | XP_011536382.1:n.5927-16_5927-13del | |
| XM_011538081.2:c.5924-16_5924-13del | XP_011536383.1:n.5924-16_5924-13del | |
| XM_011538082.2:c.5897-16_5897-13del | XP_011536384.1:n.5897-16_5897-13del | |
| XM_017019090.1:c.5888-16_5888-13del | XP_016874579.1:n.5888-16_5888-13del | |
| NM_015335.5:c.5891-16_5891-13del MANE Select | NP_056150.1:n.5891-16_5891-13del |