Linked Data
dbSNP Id:
rs1438059852
gnomAD v2:
6-80878526-GAAC-G
gnomAD v3:
6-80168809-GAAC-G
gnomAD v4:
6-80168809-GAAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80168810_80168812del , CM000668.2:g.80168810_80168812del | GRCh38 |
| NC_000006.11:g.80878527_80878529del , CM000668.1:g.80878527_80878529del | GRCh37 |
| NC_000006.10:g.80935246_80935248del | NCBI36 |
| NG_009775.1:g.67184_67186del | |
| NG_009775.2:g.67184_67186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.478-65_478-63del MANE Select | ENSP00000318351.5:n.478-65_478-63del | |
| ENST00000320393.8:c.478-65_478-63del | ENSP00000318351.5:n.478-65_478-63del | |
| ENST00000356489.9:c.478-65_478-63del | ENSP00000348880.5:n.478-65_478-63del | |
| ENST00000369760.8:c.478-65_478-63del | ENSP00000358775.4:n.478-65_478-63del | |
| NM_000056.3:c.478-65_478-63del | NP_000047.1:n.478-65_478-63del | |
| NM_183050.2:c.478-65_478-63del | NP_898871.1:n.478-65_478-63del | |
| XM_005248756.3:c.478-65_478-63del | XP_005248813.1:n.478-65_478-63del | |
| XM_006715542.2:c.268-65_268-63del | XP_006715605.1:n.268-65_268-63del | |
| XM_011536023.1:c.478-65_478-63del | XP_011534325.1:n.478-65_478-63del | |
| XM_011536024.1:c.478-65_478-63del | XP_011534326.1:n.478-65_478-63del | |
| XM_011536025.1:c.478-65_478-63del | XP_011534327.1:n.478-65_478-63del | |
| XM_011536026.1:c.268-65_268-63del | XP_011534328.1:n.268-65_268-63del | |
| XM_011536027.1:c.478-65_478-63del | XP_011534329.1:n.478-65_478-63del | |
| NM_000056.4:c.478-65_478-63del | NP_000047.1:n.478-65_478-63del | |
| NM_001318975.1:c.268-65_268-63del | NP_001305904.1:n.268-65_268-63del | |
| NM_183050.3:c.478-65_478-63del | NP_898871.1:n.478-65_478-63del | |
| NR_134945.1:n.562-65_562-63del | ||
| XM_005248756.5:c.478-65_478-63del | XP_005248813.1:n.478-65_478-63del | |
| XM_011536023.3:c.478-65_478-63del | XP_011534325.1:n.478-65_478-63del | |
| XM_011536024.3:c.478-65_478-63del | XP_011534326.1:n.478-65_478-63del | |
| XM_011536025.3:c.478-65_478-63del | XP_011534327.1:n.478-65_478-63del | |
| XR_001743546.2:n.508-65_508-63del | ||
| XR_001743547.2:n.508-65_508-63del | ||
| XR_001743548.2:n.508-65_508-63del | ||
| XR_001743549.2:n.508-65_508-63del | ||
| XR_002956292.1:n.508-65_508-63del | ||
| NM_183050.4:c.478-65_478-63del MANE Select | NP_898871.1:n.478-65_478-63del | |
| NR_134945.2:n.501-65_501-63del | ||
| NM_000056.5:c.478-65_478-63del | NP_000047.1:n.478-65_478-63del |