Linked Data
dbSNP Id:
rs1263405963
gnomAD v2:
X-76763771-T-TA
gnomAD v3:
X-77508293-T-TA
gnomAD v4:
X-77508293-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508300dup , CM000685.2:g.77508300dup | GRCh38 |
| NC_000023.10:g.76763778dup , CM000685.1:g.76763778dup | GRCh37 |
| NC_000023.9:g.76650434dup | NCBI36 |
| NG_008838.2:g.282928dup | |
| NG_008838.3:g.282976dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.*57dup MANE Select | ENSP00000362441.4:n.*57dup | |
| ENST00000675732.1:c.*57dup | ENSP00000502598.1:n.*57dup | |
| ENST00000373344.9:c.*57dup | ENSP00000362441.4:n.*57dup | |
| ENST00000395603.7:c.*57dup | ENSP00000378967.3:n.*57dup | |
| ENST00000480283.5:c.*7164dup | ENSP00000480196.1:n.*7164dup | |
| ENST00000623706.3:n.5856dup | ||
| NM_000489.4:c.*57dup | NP_000480.3:n.*57dup | |
| NM_138270.3:c.*57dup | NP_612114.2:n.*57dup | |
| XM_005262153.3:c.*57dup | XP_005262210.2:n.*57dup | |
| XM_005262154.3:c.*57dup | XP_005262211.2:n.*57dup | |
| XM_005262155.3:c.*57dup | XP_005262212.2:n.*57dup | |
| XM_005262156.3:c.*57dup | XP_005262213.2:n.*57dup | |
| XM_005262157.3:c.*57dup | XP_005262214.2:n.*57dup | |
| XM_006724666.2:c.*57dup | XP_006724729.1:n.*57dup | |
| XM_006724667.2:c.*57dup | XP_006724730.1:n.*57dup | |
| XR_938400.1:n.9128dup | ||
| NM_000489.5:c.*57dup | NP_000480.3:n.*57dup | |
| XM_005262153.5:c.*57dup | XP_005262210.2:n.*57dup | |
| XM_005262154.5:c.*57dup | XP_005262211.2:n.*57dup | |
| XM_005262155.4:c.*57dup | XP_005262212.2:n.*57dup | |
| XM_005262156.4:c.*57dup | XP_005262213.2:n.*57dup | |
| XM_005262157.5:c.*57dup | XP_005262214.2:n.*57dup | |
| XM_006724666.4:c.*57dup | XP_006724729.1:n.*57dup | |
| XM_006724667.3:c.*57dup | XP_006724730.1:n.*57dup | |
| XM_017029601.2:c.*57dup | XP_016885090.1:n.*57dup | |
| XM_017029602.1:c.*57dup | XP_016885091.1:n.*57dup | |
| XM_017029603.1:c.*57dup | XP_016885092.1:n.*57dup | |
| XM_017029604.2:c.*57dup | XP_016885093.1:n.*57dup | |
| XM_017029605.1:c.*57dup | XP_016885094.1:n.*57dup | |
| XM_017029606.2:c.*57dup | XP_016885095.1:n.*57dup | |
| XM_017029607.2:c.*57dup | XP_016885096.1:n.*57dup | |
| XM_017029608.2:c.*57dup | XP_016885097.1:n.*57dup | |
| XM_017029609.1:c.*57dup | XP_016885098.1:n.*57dup | |
| XM_017029610.1:c.*57dup | XP_016885099.1:n.*57dup | |
| XM_017029611.1:c.*57dup | XP_016885100.1:n.*57dup | |
| XR_001755700.2:n.7835dup | ||
| NM_138270.4:c.*57dup | NP_612114.2:n.*57dup | |
| NM_000489.6:c.*57dup MANE Select | NP_000480.3:n.*57dup | |
| NM_138270.5:c.*57dup | NP_612114.2:n.*57dup |