Linked Data
dbSNP Id:
rs1423084689
gnomAD v2:
12-53203102-CA-C
gnomAD v3:
12-52809318-CA-C
gnomAD v4:
12-52809318-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52809320del , CM000674.2:g.52809320del | GRCh38 |
| NC_000012.11:g.53203104del , CM000674.1:g.53203104del | GRCh37 |
| NC_000012.10:g.51489371del | NCBI36 |
| NG_007380.1:g.10233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.834+64del MANE Select | ENSP00000448220.1:n.834+64del | |
| ENST00000548097.5:c.*346+64del | ENSP00000449755.1:n.*346+64del | |
| ENST00000549295.1:n.332del | ||
| ENST00000551956.1:c.834+64del | ENSP00000448220.1:n.834+64del | |
| NM_002272.3:c.834+64del | NP_002263.3:n.834+64del | |
| NM_002272.4:c.834+64del MANE Select | NP_002263.3:n.834+64del |