Linked Data
dbSNP Id:
rs781019753
gnomAD v2:
6-31322379-GCTCCTCCACA-G
gnomAD v4:
6-31354602-GCTCCTCCACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354607_31354616del , CM000668.2:g.31354607_31354616del | GRCh38 |
| NC_000006.11:g.31322384_31322393del , CM000668.1:g.31322384_31322393del | GRCh37 |
| NC_000006.10:g.31430363_31430372del | NCBI36 |
| NG_023187.1:g.7601_7610del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3092+21_3092+30del | ||
| ENST00000481849.6:n.3052+21_3052+30del | ||
| ENST00000497377.6:n.2959+21_2959+30del | ||
| ENST00000640094.2:c.928+21_928+30del | ENSP00000491275.2:n.928+21_928+30del | |
| ENST00000696558.1:c.1114+21_1114+30del | ENSP00000512716.1:n.1114+21_1114+30del | |
| ENST00000696559.1:c.1045+21_1045+30del | ENSP00000512717.1:n.1045+21_1045+30del | |
| ENST00000696560.1:c.1045+21_1045+30del | ENSP00000512718.1:n.1045+21_1045+30del | |
| ENST00000696561.1:c.1045+21_1045+30del | ENSP00000512719.1:n.1045+21_1045+30del | |
| ENST00000696562.1:c.1045+21_1045+30del | ENSP00000512720.1:n.1045+21_1045+30del | |
| ENST00000412585.7:c.1045+21_1045+30del MANE Select | ENSP00000399168.2:n.1045+21_1045+30del | |
| ENST00000640094.1:c.121+21_121+30del | ENSP00000491275.1:n.121+21_121+30del | |
| ENST00000412585.6:c.1045+21_1045+30del | ENSP00000399168.2:n.1045+21_1045+30del | |
| ENST00000481849.5:n.195_204del | ||
| ENST00000497377.5:n.444+21_444+30del | ||
| NM_005514.6:c.1045+21_1045+30del | NP_005505.2:n.1045+21_1045+30del | |
| XM_011514556.1:c.1078+21_1078+30del | XP_011512858.1:n.1078+21_1078+30del | |
| XM_011514557.1:c.928+21_928+30del | XP_011512859.1:n.928+21_928+30del | |
| XR_926175.1:n.1484+21_1484+30del | ||
| NM_005514.7:c.1045+21_1045+30del | NP_005505.2:n.1045+21_1045+30del | |
| NM_005514.8:c.1045+21_1045+30del MANE Select | NP_005505.2:n.1045+21_1045+30del |