Linked Data
dbSNP Id:
rs397515495
MyVariant Identifiers:
chrX:g.107858179_107858186delinsAACCTGGACCAATGGGACCAATGGGAACAC (hg19)
chrX:g.108614949_108614956delinsAACCTGGACCAATGGGACCAATGGGAACAC (hg38)
PubMed:
PMID:9848783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108614949_108614956delinsAACCTGGACCAATGGGACCAATGGGAACAC , CM000685.2:g.108614949_108614956delinsAACCTGGACCAATGGGACCAATGGGAACAC | GRCh38 |
| NC_000023.10:g.107858179_107858186delinsAACCTGGACCAATGGGACCAATGGGAACAC , CM000685.1:g.107858179_107858186delinsAACCTGGACCAATGGGACCAATGGGAACAC | GRCh37 |
| NC_000023.9:g.107744835_107744842delinsAACCTGGACCAATGGGACCAATGGGAACAC | NCBI36 |
| NG_011977.1:g.180026_180033delinsAACCTGGACCAATGGGACCAATGGGAACAC | |
| NG_011977.2:g.180026_180033delinsAACCTGGACCAATGGGACCAATGGGAACAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC MANE Select | ENSP00000331902.7:p.Pro812AsnfsTer? | |
| ENST00000361603.7:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC | ENSP00000354505.2:p.Pro812AsnfsTer? | |
| ENST00000328300.10:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC | ENSP00000331902.6:p.Pro812AsnfsTer? | |
| ENST00000361603.6:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC | ENSP00000354505.2:p.Pro812AsnfsTer? | |
| ENST00000483338.1:n.1890_1897delinsAACCTGGACCAATGGGACCAATGGGAACAC | ||
| NM_000495.4:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC | NP_000486.1:p.Pro812AsnfsTer? | |
| NM_033380.2:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC | NP_203699.1:p.Pro812AsnfsTer? | |
| XM_005262070.2:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_005262127.1:p.Pro812AsnfsTer? | |
| XM_005262072.3:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_005262129.1:p.Pro812AsnfsTer? | |
| XM_006724616.2:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_006724679.1:p.Pro812AsnfsTer? | |
| XM_011530849.1:c.2110_2117delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_011529151.1:p.Pro704AsnfsTer? | |
| XM_011530850.1:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_011529152.1:p.Pro812AsnfsTer? | |
| XM_011530851.1:c.7_14delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_011529153.1:p.Pro3AsnfsTer? | |
| XM_011530849.2:c.2449_2456delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_011529151.2:p.Pro817AsnfsTer? | |
| XM_017029259.2:c.2449_2456delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_016884748.1:p.Pro817AsnfsTer? | |
| XM_017029260.1:c.2449_2456delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_016884749.1:p.Pro817AsnfsTer? | |
| XM_017029261.1:c.2449_2456delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_016884750.1:p.Pro817AsnfsTer? | |
| XM_017029262.2:c.2449_2456delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_016884751.1:p.Pro817AsnfsTer? | |
| XM_017029263.2:c.769_776delinsAACCTGGACCAATGGGACCAATGGGAACAC | XP_016884752.1:p.Pro257AsnfsTer? | |
| NM_000495.5:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC | NP_000486.1:p.Pro812AsnfsTer? | |
| NM_033380.3:c.2434_2441delinsAACCTGGACCAATGGGACCAATGGGAACAC MANE Select | NP_203699.1:p.Pro812AsnfsTer? |