Linked Data
dbSNP Id:
rs571282407
gnomAD v2:
9-140051041-AGAG-A
gnomAD v3:
9-137156589-AGAG-A
gnomAD v4:
9-137156589-AGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137156598_137156600del , CM000671.2:g.137156598_137156600del | GRCh38 |
| NC_000009.11:g.140051050_140051052del , CM000671.1:g.140051050_140051052del | GRCh37 |
| NC_000009.10:g.139170871_139170873del | NCBI36 |
| NG_011507.1:g.22442_22444del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371553.8:c.735-71_735-69del | ENSP00000360608.3:n.735-71_735-69del | |
| ENST00000371560.5:c.735-71_735-69del | ENSP00000360615.3:n.735-71_735-69del | |
| ENST00000371561.8:c.672-71_672-69del MANE Select | ENSP00000360616.3:n.672-71_672-69del | |
| ENST00000675295.1:n.102-71_102-69del | ||
| ENST00000676396.1:n.2111_2113del | ||
| ENST00000350902.9:c.735-71_735-69del | ENSP00000316915.9:n.735-71_735-69del | |
| ENST00000371546.8:c.735-71_735-69del | ENSP00000360601.4:n.735-71_735-69del | |
| ENST00000371550.8:c.672-71_672-69del | ENSP00000360605.4:n.672-71_672-69del | |
| ENST00000371553.7:c.735-71_735-69del | ENSP00000360608.3:n.735-71_735-69del | |
| ENST00000371555.8:c.735-71_735-69del | ENSP00000360610.4:n.735-71_735-69del | |
| ENST00000371559.8:c.672-71_672-69del | ENSP00000360614.4:n.672-71_672-69del | |
| ENST00000371560.4:c.735-71_735-69del | ENSP00000360615.3:n.735-71_735-69del | |
| ENST00000371561.7:c.672-71_672-69del | ENSP00000360616.3:n.672-71_672-69del | |
| ENST00000471122.5:n.749-71_749-69del | ||
| NM_000832.6:c.672-71_672-69del | NP_000823.4:n.672-71_672-69del | |
| NM_001185090.1:c.735-71_735-69del | NP_001172019.1:n.735-71_735-69del | |
| NM_001185091.1:c.735-71_735-69del | NP_001172020.1:n.735-71_735-69del | |
| NM_007327.3:c.672-71_672-69del | NP_015566.1:n.672-71_672-69del | |
| NM_021569.3:c.672-71_672-69del | NP_067544.1:n.672-71_672-69del | |
| XM_005266071.2:c.672-71_672-69del | XP_005266128.1:n.672-71_672-69del | |
| XM_005266072.2:c.735-71_735-69del | XP_005266129.1:n.735-71_735-69del | |
| XM_005266073.3:c.735-71_735-69del | XP_005266130.1:n.735-71_735-69del | |
| XM_011518583.1:c.735-71_735-69del | XP_011516885.1:n.735-71_735-69del | |
| XR_930457.1:n.70_72del | ||
| XM_005266071.3:c.672-71_672-69del | XP_005266128.1:n.672-71_672-69del | |
| XM_005266072.3:c.735-71_735-69del | XP_005266129.1:n.735-71_735-69del | |
| XM_005266073.4:c.735-71_735-69del | XP_005266130.1:n.735-71_735-69del | |
| XM_011518583.2:c.735-71_735-69del | XP_011516885.1:n.735-71_735-69del | |
| NM_007327.4:c.672-71_672-69del MANE Select | NP_015566.1:n.672-71_672-69del | |
| NM_000832.7:c.672-71_672-69del | NP_000823.4:n.672-71_672-69del | |
| NM_001185090.2:c.735-71_735-69del | NP_001172019.1:n.735-71_735-69del | |
| NM_001185091.2:c.735-71_735-69del | NP_001172020.1:n.735-71_735-69del | |
| NM_021569.4:c.672-71_672-69del | NP_067544.1:n.672-71_672-69del |