Linked Data
dbSNP Id:
rs1448387572
gnomAD v3:
X-77508538-GC-G
gnomAD v4:
X-77508538-GC-G
MyVariant Identifiers:
chrX:g.77508539del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508539del , CM000685.2:g.77508539del | GRCh38 |
| NC_000023.10:g.76764017del , CM000685.1:g.76764017del | GRCh37 |
| NC_000023.9:g.76650673del | NCBI36 |
| NG_008838.2:g.282683del | |
| NG_008838.3:g.282731del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7291del MANE Select | ENSP00000362441.4:p.Ala2431GlnfsTer7 | |
| ENST00000675732.1:c.2389del | ENSP00000502598.1:p.Ala797GlnfsTer7 | |
| ENST00000373344.9:c.7291del | ENSP00000362441.4:p.Ala2431GlnfsTer7 | |
| ENST00000395603.7:c.7177del | ENSP00000378967.3:p.Ala2393GlnfsTer7 | |
| ENST00000480283.5:c.*6919del | ENSP00000480196.1:n.*6919del | |
| ENST00000623706.3:n.5611del | ||
| ENST00000624766.1:n.522del | ||
| NM_000489.4:c.7291del | NP_000480.3:p.Ala2431GlnfsTer7 | |
| NM_138270.3:c.7177del | NP_612114.2:p.Ala2393GlnfsTer7 | |
| XM_005262153.3:c.7288del | XP_005262210.2:p.Ala2430GlnfsTer7 | |
| XM_005262154.3:c.7204del | XP_005262211.2:p.Ala2402GlnfsTer7 | |
| XM_005262155.3:c.7174del | XP_005262212.2:p.Ala2392GlnfsTer7 | |
| XM_005262156.3:c.7126del | XP_005262213.2:p.Ala2376GlnfsTer7 | |
| XM_005262157.3:c.7087del | XP_005262214.2:p.Ala2363GlnfsTer7 | |
| XM_006724666.2:c.7174del | XP_006724729.1:p.Ala2392GlnfsTer7 | |
| XM_006724667.2:c.7012del | XP_006724730.1:p.Ala2338GlnfsTer7 | |
| XR_938400.1:n.8883del | ||
| NM_000489.5:c.7291del | NP_000480.3:p.Ala2431GlnfsTer7 | |
| XM_005262153.5:c.7288del | XP_005262210.2:p.Ala2430GlnfsTer7 | |
| XM_005262154.5:c.7204del | XP_005262211.2:p.Ala2402GlnfsTer7 | |
| XM_005262155.4:c.7174del | XP_005262212.2:p.Ala2392GlnfsTer7 | |
| XM_005262156.4:c.7126del | XP_005262213.2:p.Ala2376GlnfsTer7 | |
| XM_005262157.5:c.7087del | XP_005262214.2:p.Ala2363GlnfsTer7 | |
| XM_006724666.4:c.7174del | XP_006724729.1:p.Ala2392GlnfsTer7 | |
| XM_006724667.3:c.7012del | XP_006724730.1:p.Ala2338GlnfsTer7 | |
| XM_017029601.2:c.7201del | XP_016885090.1:p.Ala2401GlnfsTer7 | |
| XM_017029602.1:c.7171del | XP_016885091.1:p.Ala2391GlnfsTer7 | |
| XM_017029603.1:c.7123del | XP_016885092.1:p.Ala2375GlnfsTer7 | |
| XM_017029604.2:c.7090del | XP_016885093.1:p.Ala2364GlnfsTer7 | |
| XM_017029605.1:c.7087del | XP_016885094.1:p.Ala2363GlnfsTer7 | |
| XM_017029606.2:c.7060del | XP_016885095.1:p.Ala2354GlnfsTer7 | |
| XM_017029607.2:c.7057del | XP_016885096.1:p.Ala2353GlnfsTer7 | |
| XM_017029608.2:c.7009del | XP_016885097.1:p.Ala2337GlnfsTer7 | |
| XM_017029609.1:c.6973del | XP_016885098.1:p.Ala2325GlnfsTer7 | |
| XM_017029610.1:c.6970del | XP_016885099.1:p.Ala2324GlnfsTer7 | |
| XM_017029611.1:c.6925del | XP_016885100.1:p.Ala2309GlnfsTer7 | |
| XR_001755700.2:n.7590del | ||
| NM_138270.4:c.7177del | NP_612114.2:p.Ala2393GlnfsTer7 | |
| NM_000489.6:c.7291del MANE Select | NP_000480.3:p.Ala2431GlnfsTer7 | |
| NM_138270.5:c.7177del | NP_612114.2:p.Ala2393GlnfsTer7 |