Linked Data
dbSNP Id:
rs1772705847
gnomAD v3:
6-80168605-AAAGGAAGGAAGGAGG-A
gnomAD v4:
6-80168605-AAAGGAAGGAAGGAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80168606_80168620del , CM000668.2:g.80168606_80168620del | GRCh38 |
| NC_000006.11:g.80878323_80878337del , CM000668.1:g.80878323_80878337del | GRCh37 |
| NC_000006.10:g.80935042_80935056del | NCBI36 |
| NG_009775.1:g.66980_66994del | |
| NG_009775.2:g.66980_66994del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.478-269_478-255del MANE Select | ENSP00000318351.5:n.478-269_478-255del | |
| ENST00000320393.8:c.478-269_478-255del | ENSP00000318351.5:n.478-269_478-255del | |
| ENST00000356489.9:c.478-269_478-255del | ENSP00000348880.5:n.478-269_478-255del | |
| ENST00000369760.8:c.478-269_478-255del | ENSP00000358775.4:n.478-269_478-255del | |
| NM_000056.3:c.478-269_478-255del | NP_000047.1:n.478-269_478-255del | |
| NM_183050.2:c.478-269_478-255del | NP_898871.1:n.478-269_478-255del | |
| XM_005248756.3:c.478-269_478-255del | XP_005248813.1:n.478-269_478-255del | |
| XM_006715542.2:c.268-269_268-255del | XP_006715605.1:n.268-269_268-255del | |
| XM_011536023.1:c.478-269_478-255del | XP_011534325.1:n.478-269_478-255del | |
| XM_011536024.1:c.478-269_478-255del | XP_011534326.1:n.478-269_478-255del | |
| XM_011536025.1:c.478-269_478-255del | XP_011534327.1:n.478-269_478-255del | |
| XM_011536026.1:c.268-269_268-255del | XP_011534328.1:n.268-269_268-255del | |
| XM_011536027.1:c.478-269_478-255del | XP_011534329.1:n.478-269_478-255del | |
| NM_000056.4:c.478-269_478-255del | NP_000047.1:n.478-269_478-255del | |
| NM_001318975.1:c.268-269_268-255del | NP_001305904.1:n.268-269_268-255del | |
| NM_183050.3:c.478-269_478-255del | NP_898871.1:n.478-269_478-255del | |
| NR_134945.1:n.562-269_562-255del | ||
| XM_005248756.5:c.478-269_478-255del | XP_005248813.1:n.478-269_478-255del | |
| XM_011536023.3:c.478-269_478-255del | XP_011534325.1:n.478-269_478-255del | |
| XM_011536024.3:c.478-269_478-255del | XP_011534326.1:n.478-269_478-255del | |
| XM_011536025.3:c.478-269_478-255del | XP_011534327.1:n.478-269_478-255del | |
| XR_001743546.2:n.508-269_508-255del | ||
| XR_001743547.2:n.508-269_508-255del | ||
| XR_001743548.2:n.508-269_508-255del | ||
| XR_001743549.2:n.508-269_508-255del | ||
| XR_002956292.1:n.508-269_508-255del | ||
| NM_183050.4:c.478-269_478-255del MANE Select | NP_898871.1:n.478-269_478-255del | |
| NR_134945.2:n.501-269_501-255del | ||
| NM_000056.5:c.478-269_478-255del | NP_000047.1:n.478-269_478-255del |