Linked Data
dbSNP Id:
rs104886408
MyVariant Identifiers:
chrX:g.107683393_107683396dup (hg19)
chrX:g.107683393_107683396dupTCTT (hg19)
chrX:g.108440163_108440166dup (hg38)
chrX:g.108440163_108440166dupTCTT (hg38)
PubMed:
PMID:18616531
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108440163_108440166dup , CM000685.2:g.108440163_108440166dup | GRCh38 |
| NC_000023.10:g.107683393_107683396dup , CM000685.1:g.107683393_107683396dup | GRCh37 |
| NC_000023.9:g.107570049_107570052dup | NCBI36 |
| NG_011977.1:g.5240_5243dup | |
| NG_012059.2:g.4310_4313dup | |
| NG_011977.2:g.5240_5243dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.38_41dup MANE Select | ENSP00000331902.7:p.Leu14PhefsTer27 | |
| ENST00000361603.7:c.38_41dup | ENSP00000354505.2:p.Leu14PhefsTer27 | |
| ENST00000642185.1:c.38_41dup | ENSP00000495101.1:p.Leu14PhefsTer? | |
| ENST00000328300.10:c.38_41dup | ENSP00000331902.6:p.Leu14PhefsTer27 | |
| ENST00000361603.6:c.38_41dup | ENSP00000354505.2:p.Leu14PhefsTer27 | |
| ENST00000470339.1:n.222_225dup | ||
| ENST00000477429.1:n.320_323dup | ||
| NM_000495.4:c.38_41dup | NP_000486.1:p.Leu14PhefsTer27 | |
| NM_033380.2:c.38_41dup | NP_203699.1:p.Leu14PhefsTer27 | |
| XM_005262070.2:c.38_41dup | XP_005262127.1:p.Leu14PhefsTer27 | |
| XM_005262072.3:c.38_41dup | XP_005262129.1:p.Leu14PhefsTer27 | |
| XM_006724616.2:c.38_41dup | XP_006724679.1:p.Leu14PhefsTer27 | |
| XM_011530850.1:c.38_41dup | XP_011529152.1:p.Leu14PhefsTer27 | |
| NM_000495.5:c.38_41dup | NP_000486.1:p.Leu14PhefsTer27 | |
| NM_033380.3:c.38_41dup MANE Select | NP_203699.1:p.Leu14PhefsTer27 |