Linked Data
dbSNP Id:
rs1442093780
gnomAD v2:
6-81053587-CAAGACACAGCAATCATCAGTGTT-C
gnomAD v3:
6-80343870-CAAGACACAGCAATCATCAGTGTT-C
gnomAD v4:
6-80343870-CAAGACACAGCAATCATCAGTGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80343871_80343893del , CM000668.2:g.80343871_80343893del | GRCh38 |
| NC_000006.11:g.81053588_81053610del , CM000668.1:g.81053588_81053610del | GRCh37 |
| NC_000006.10:g.81110307_81110329del | NCBI36 |
| NG_009775.1:g.242245_242267del | |
| NG_009775.2:g.242245_242267del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.*67_*89del MANE Select | ENSP00000318351.5:n.*67_*89del | |
| ENST00000320393.8:c.*67_*89del | ENSP00000318351.5:n.*67_*89del | |
| ENST00000356489.9:c.*8+59_*8+81del | ENSP00000348880.5:n.*8+59_*8+81del | |
| ENST00000491328.1:n.242+59_242+81del | ||
| NM_000056.3:c.*8+59_*8+81del | NP_000047.1:n.*8+59_*8+81del | |
| NM_183050.2:c.*67_*89del | NP_898871.1:n.*67_*89del | |
| NM_000056.4:c.*8+59_*8+81del | NP_000047.1:n.*8+59_*8+81del | |
| NM_001318975.1:c.*67_*89del | NP_001305904.1:n.*67_*89del | |
| NM_183050.3:c.*67_*89del | NP_898871.1:n.*67_*89del | |
| NR_134945.1:n.1424_1446del | ||
| XM_011536024.3:c.*252_*274del | XP_011534326.1:n.*252_*274del | |
| XR_001743546.2:n.1068+70650_1068+70672del | ||
| XR_001743547.2:n.1068+70650_1068+70672del | ||
| XR_001743548.2:n.1068+70650_1068+70672del | ||
| XR_001743549.2:n.1068+70650_1068+70672del | ||
| XR_002956292.1:n.1068+70650_1068+70672del | ||
| NM_183050.4:c.*67_*89del MANE Select | NP_898871.1:n.*67_*89del | |
| NR_134945.2:n.1363_1385del | ||
| NM_000056.5:c.*8+59_*8+81del | NP_000047.1:n.*8+59_*8+81del |