Linked Data
dbSNP Id:
rs1398746825
gnomAD v2:
12-65639899-AAC-A
gnomAD v3:
12-65246119-AAC-A
gnomAD v4:
12-65246119-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246121_65246122del , CM000674.2:g.65246121_65246122del | GRCh38 |
| NC_000012.11:g.65639901_65639902del , CM000674.1:g.65639901_65639902del | GRCh37 |
| NC_000012.10:g.63926168_63926169del | NCBI36 |
| NG_016210.1:g.81551_81552del | |
| NG_016210.2:g.81551_81552del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2573-41_2573-40del MANE Select | ENSP00000308369.2:n.2573-41_2573-40del | |
| ENST00000308330.2:c.2573-41_2573-40del | ENSP00000308369.2:n.2573-41_2573-40del | |
| ENST00000539442.1:n.555-41_555-40del | ||
| ENST00000544506.1:n.293-41_293-40del | ||
| ENST00000545026.1:n.391-41_391-40del | ||
| NM_001167614.1:c.2570-41_2570-40del | NP_001161086.1:n.2570-41_2570-40del | |
| NM_014319.4:c.2573-41_2573-40del | NP_055134.2:n.2573-41_2573-40del | |
| NM_014319.5:c.2573-41_2573-40del MANE Select | NP_055134.2:n.2573-41_2573-40del | |
| NM_001167614.2:c.2570-41_2570-40del | NP_001161086.1:n.2570-41_2570-40del |