Linked Data
dbSNP Id:
rs281874720
MyVariant Identifiers:
chrX:g.107911650_107911666delinsT (hg19)
chrX:g.108668420_108668436delinsT (hg38)
PubMed:
PMID:20378821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108668420_108668436delinsT , CM000685.2:g.108668420_108668436delinsT | GRCh38 |
| NC_000023.10:g.107911650_107911666delinsT , CM000685.1:g.107911650_107911666delinsT | GRCh37 |
| NC_000023.9:g.107798306_107798322delinsT | NCBI36 |
| NG_011977.1:g.233497_233513delinsT | |
| NG_011977.2:g.233497_233513delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.3706_3722delinsT MANE Select | ENSP00000331902.7:p.Pro1236PhefsTer? | |
| ENST00000361603.7:c.3706_3722delinsT | ENSP00000354505.2:p.Pro1236PhefsTer? | |
| ENST00000328300.10:c.3706_3722delinsT | ENSP00000331902.6:p.Pro1236PhefsTer? | |
| ENST00000361603.6:c.3706_3722delinsT | ENSP00000354505.2:p.Pro1236PhefsTer? | |
| NM_000495.4:c.3706_3722delinsT | NP_000486.1:p.Pro1236PhefsTer? | |
| NM_033380.2:c.3706_3722delinsT | NP_203699.1:p.Pro1236PhefsTer? | |
| XM_005262070.2:c.3706_3722delinsT | XP_005262127.1:p.Pro1236PhefsTer? | |
| XM_006724616.2:c.3706_3722delinsT | XP_006724679.1:p.Pro1236PhefsTer? | |
| XM_011530849.1:c.3382_3398delinsT | XP_011529151.1:p.Pro1128PhefsTer? | |
| XM_011530850.1:c.3706_3722delinsT | XP_011529152.1:p.Pro1236PhefsTer? | |
| XM_011530851.1:c.1279_1295delinsT | XP_011529153.1:p.Pro427PhefsTer? | |
| XM_011530849.2:c.3721_3737delinsT | XP_011529151.2:p.Pro1241PhefsTer? | |
| XM_017029259.2:c.3721_3737delinsT | XP_016884748.1:p.Pro1241PhefsTer? | |
| XM_017029260.1:c.3721_3737delinsT | XP_016884749.1:p.Pro1241PhefsTer? | |
| XM_017029261.1:c.3721_3737delinsT | XP_016884750.1:p.Pro1241PhefsTer? | |
| XM_017029262.2:c.3721_3737delinsT | XP_016884751.1:p.Pro1241PhefsTer? | |
| XM_017029263.2:c.2041_2057delinsT | XP_016884752.1:p.Pro681PhefsTer? | |
| NM_000495.5:c.3706_3722delinsT | NP_000486.1:p.Pro1236PhefsTer? | |
| NM_033380.3:c.3706_3722delinsT MANE Select | NP_203699.1:p.Pro1236PhefsTer? |