Linked Data
dbSNP Id:
rs545558315
gnomAD v2:
12-58160138-CCTCT-C
gnomAD v3:
12-57766355-CCTCT-C
gnomAD v4:
12-57766355-CCTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766359_57766362del , CM000674.2:g.57766359_57766362del | GRCh38 |
| NC_000012.11:g.58160142_58160145del , CM000674.1:g.58160142_58160145del | GRCh37 |
| NC_000012.10:g.56446409_56446412del | NCBI36 |
| NG_007076.1:g.5835_5838del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.108-162_108-159del | ||
| ENST00000713544.1:c.196-162_196-159del | ENSP00000518840.1:n.196-162_196-159del | |
| ENST00000713545.1:c.196-162_196-159del | ENSP00000518841.1:n.196-162_196-159del | |
| ENST00000228606.9:c.196-162_196-159del MANE Select | ENSP00000228606.4:n.196-162_196-159del | |
| ENST00000228606.8:c.196-162_196-159del | ENSP00000228606.4:n.196-162_196-159del | |
| ENST00000546496.1:n.23+75_23+78del | ||
| ENST00000546609.1:c.108-162_108-159del | ||
| ENST00000547344.5:n.250-162_250-159del | ||
| ENST00000552186.1:n.153_156del | ||
| NM_000785.3:c.196-162_196-159del | NP_000776.1:n.196-162_196-159del | |
| NM_000785.4:c.196-162_196-159del MANE Select | NP_000776.1:n.196-162_196-159del |