Linked Data
dbSNP Id:
rs104886394
MyVariant Identifiers:
chrX:g.107911698_107911701dup (hg19)
chrX:g.107911698_107911701dupGGCA (hg19)
chrX:g.108668468_108668471dup (hg38)
chrX:g.108668468_108668471dupGGCA (hg38)
PubMed:
PMID:8648925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108668468_108668471dup , CM000685.2:g.108668468_108668471dup | GRCh38 |
| NC_000023.10:g.107911698_107911701dup , CM000685.1:g.107911698_107911701dup | GRCh37 |
| NC_000023.9:g.107798354_107798357dup | NCBI36 |
| NG_011977.1:g.233545_233548dup | |
| NG_011977.2:g.233545_233548dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.3754_3757dup MANE Select | ENSP00000331902.7:p.Asn1253ArgfsTer? | |
| ENST00000361603.7:c.3754_3757dup | ENSP00000354505.2:p.Asn1253ArgfsTer30 | |
| ENST00000328300.10:c.3754_3757dup | ENSP00000331902.6:p.Asn1253ArgfsTer? | |
| ENST00000361603.6:c.3754_3757dup | ENSP00000354505.2:p.Asn1253ArgfsTer30 | |
| NM_000495.4:c.3754_3757dup | NP_000486.1:p.Asn1253ArgfsTer30 | |
| NM_033380.2:c.3754_3757dup | NP_203699.1:p.Asn1253ArgfsTer? | |
| XM_005262070.2:c.3754_3757dup | XP_005262127.1:p.Asn1253ArgfsTer? | |
| XM_006724616.2:c.3754_3757dup | XP_006724679.1:p.Asn1253ArgfsTer? | |
| XM_011530849.1:c.3430_3433dup | XP_011529151.1:p.Asn1145ArgfsTer? | |
| XM_011530850.1:c.3754_3757dup | XP_011529152.1:p.Asn1253ArgfsTer? | |
| XM_011530851.1:c.1327_1330dup | XP_011529153.1:p.Asn444ArgfsTer? | |
| XM_011530849.2:c.3769_3772dup | XP_011529151.2:p.Asn1258ArgfsTer? | |
| XM_017029259.2:c.3769_3772dup | XP_016884748.1:p.Asn1258ArgfsTer? | |
| XM_017029260.1:c.3769_3772dup | XP_016884749.1:p.Asn1258ArgfsTer30 | |
| XM_017029261.1:c.3769_3772dup | XP_016884750.1:p.Asn1258ArgfsTer? | |
| XM_017029262.2:c.3769_3772dup | XP_016884751.1:p.Asn1258ArgfsTer? | |
| XM_017029263.2:c.2089_2092dup | XP_016884752.1:p.Asn698ArgfsTer? | |
| NM_000495.5:c.3754_3757dup | NP_000486.1:p.Asn1253ArgfsTer30 | |
| NM_033380.3:c.3754_3757dup MANE Select | NP_203699.1:p.Asn1253ArgfsTer? |