Linked Data
dbSNP Id:
rs606231372
MyVariant Identifiers:
chrX:g.107930743_107930769del (hg19)
chrX:g.107930739_107930765del (hg19)
chrX:g.108687513_108687539del (hg38)
chrX:g.108687509_108687535del (hg38)
PubMed:
PMID:17660027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108687513_108687539del , CM000685.2:g.108687513_108687539del | GRCh38 |
| NC_000023.10:g.107930743_107930769del , CM000685.1:g.107930743_107930769del | GRCh37 |
| NC_000023.9:g.107817399_107817425del | NCBI36 |
| NG_011977.1:g.252590_252616del | |
| NG_011977.2:g.252590_252616del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.4347_4373del MANE Select | ENSP00000331902.7:p.Asp1450_Pro1458del | |
| ENST00000361603.7:c.4329_4355del | ENSP00000354505.2:p.Asp1444_Pro1452del | |
| ENST00000510690.2:n.841_867del | ||
| ENST00000328300.10:c.4347_4373del | ENSP00000331902.6:p.Asp1450_Pro1458del | |
| ENST00000361603.6:c.4329_4355del | ENSP00000354505.2:p.Asp1444_Pro1452del | |
| ENST00000515658.1:c.143_169del | ||
| NM_000495.4:c.4329_4355del | NP_000486.1:p.Asp1444_Pro1452del | |
| NM_033380.2:c.4347_4373del | NP_203699.1:p.Asp1450_Pro1458del | |
| XM_005262070.2:c.4338_4364del | XP_005262127.1:p.Asp1447_Pro1455del | |
| XM_006724616.2:c.4347_4373del | XP_006724679.1:p.Asp1450_Pro1458del | |
| XM_011530849.1:c.4023_4049del | XP_011529151.1:p.Asp1342_Pro1350del | |
| XM_011530851.1:c.1920_1946del | XP_011529153.1:p.Asp641_Pro649del | |
| XM_011530849.2:c.4362_4388del | XP_011529151.2:p.Asp1455_Pro1463del | |
| XM_017029259.2:c.4353_4379del | XP_016884748.1:p.Asp1452_Pro1460del | |
| XM_017029260.1:c.4344_4370del | XP_016884749.1:p.Asp1449_Pro1457del | |
| XM_017029263.2:c.2682_2708del | XP_016884752.1:p.Asp895_Pro903del | |
| NM_000495.5:c.4329_4355del | NP_000486.1:p.Asp1444_Pro1452del | |
| NM_033380.3:c.4347_4373del MANE Select | NP_203699.1:p.Asp1450_Pro1458del |