Linked Data
dbSNP Id:
rs104886380
MyVariant Identifiers:
chrX:g.107898648_107898651dup (hg19)
chrX:g.107898648_107898651dupCCTG (hg19)
chrX:g.108655418_108655421dup (hg38)
chrX:g.108655418_108655421dupCCTG (hg38)
PubMed:
PMID:8651296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108655418_108655421dup , CM000685.2:g.108655418_108655421dup | GRCh38 |
| NC_000023.10:g.107898648_107898651dup , CM000685.1:g.107898648_107898651dup | GRCh37 |
| NC_000023.9:g.107785304_107785307dup | NCBI36 |
| NG_011977.1:g.220495_220498dup | |
| NG_011977.2:g.220495_220498dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.3334_3337dup MANE Select | ENSP00000331902.7:p.Gly1113AlafsTer25 | |
| ENST00000361603.7:c.3334_3337dup | ENSP00000354505.2:p.Gly1113AlafsTer25 | |
| ENST00000328300.10:c.3334_3337dup | ENSP00000331902.6:p.Gly1113AlafsTer25 | |
| ENST00000361603.6:c.3334_3337dup | ENSP00000354505.2:p.Gly1113AlafsTer25 | |
| NM_000495.4:c.3334_3337dup | NP_000486.1:p.Gly1113AlafsTer25 | |
| NM_033380.2:c.3334_3337dup | NP_203699.1:p.Gly1113AlafsTer25 | |
| XM_005262070.2:c.3334_3337dup | XP_005262127.1:p.Gly1113AlafsTer25 | |
| XM_006724616.2:c.3334_3337dup | XP_006724679.1:p.Gly1113AlafsTer25 | |
| XM_011530849.1:c.3010_3013dup | XP_011529151.1:p.Gly1005AlafsTer25 | |
| XM_011530850.1:c.3334_3337dup | XP_011529152.1:p.Gly1113AlafsTer25 | |
| XM_011530851.1:c.907_910dup | XP_011529153.1:p.Gly304AlafsTer25 | |
| XM_011530849.2:c.3349_3352dup | XP_011529151.2:p.Gly1118AlafsTer25 | |
| XM_017029259.2:c.3349_3352dup | XP_016884748.1:p.Gly1118AlafsTer25 | |
| XM_017029260.1:c.3349_3352dup | XP_016884749.1:p.Gly1118AlafsTer25 | |
| XM_017029261.1:c.3349_3352dup | XP_016884750.1:p.Gly1118AlafsTer25 | |
| XM_017029262.2:c.3349_3352dup | XP_016884751.1:p.Gly1118AlafsTer25 | |
| XM_017029263.2:c.1669_1672dup | XP_016884752.1:p.Gly558AlafsTer25 | |
| NM_000495.5:c.3334_3337dup | NP_000486.1:p.Gly1113AlafsTer25 | |
| NM_033380.3:c.3334_3337dup MANE Select | NP_203699.1:p.Gly1113AlafsTer25 |