Linked Data
dbSNP Id:
rs747712669
gnomAD v2:
8-37630510-CA-C
gnomAD v3:
8-37772992-CA-C
gnomAD v4:
8-37772992-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37772995del , CM000670.2:g.37772995del | GRCh38 |
| NC_000008.10:g.37630513del , CM000670.1:g.37630513del | GRCh37 |
| NC_000008.9:g.37749671del | NCBI36 |
| NG_053030.1:g.16243del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.454+106del MANE Select | ENSP00000333551.3:n.454+106del | |
| ENST00000328195.7:c.454+106del | ENSP00000333551.3:n.454+106del | |
| ENST00000521631.1:n.137+106del | ||
| ENST00000523187.5:c.298+106del | ENSP00000427886.1:n.298+106del | |
| ENST00000523521.1:c.211+106del | ENSP00000429425.1:n.211+106del | |
| NM_007198.3:c.454+106del | NP_009129.1:n.454+106del | |
| NM_001349346.1:c.454+106del | NP_001336275.1:n.454+106del | |
| NM_001349347.1:c.448+106del | NP_001336276.1:n.448+106del | |
| NM_001349348.1:c.298+106del | NP_001336277.1:n.298+106del | |
| NM_007198.4:c.454+106del MANE Select | NP_009129.1:n.454+106del | |
| NM_001349346.2:c.454+106del | NP_001336275.1:n.454+106del | |
| NM_001349347.2:c.448+106del | NP_001336276.1:n.448+106del | |
| NM_001349348.2:c.298+106del | NP_001336277.1:n.298+106del |