Linked Data
dbSNP Id:
rs1187781153
gnomAD v4:
X-8732043-G-GGGTCGA
MyVariant Identifiers:
chrX:g.8700084_8700085insGGTCGA (hg19)
chrX:g.8732043_8732044insGGTCGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8732046_8732051dup , CM000685.2:g.8732046_8732051dup | GRCh38 |
| NC_000023.10:g.8700087_8700092dup , CM000685.1:g.8700087_8700092dup | GRCh37 |
| NC_000023.9:g.8660087_8660092dup | NCBI36 |
| NG_007088.1:g.5138_5143dup | |
| NG_007088.2:g.5138_5143dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.-13_-8dup MANE Select | ENSP00000262648.3:n.-13_-8dup | |
| ENST00000262648.7:c.-13_-8dup | ENSP00000262648.3:n.-13_-8dup | |
| ENST00000619786.1:c.-13_-8dup | ENSP00000478734.1:n.-13_-8dup | |
| NM_000216.2:c.-13_-8dup | NP_000207.2:n.-13_-8dup | |
| XM_005274501.3:c.-13_-8dup | XP_005274558.1:n.-13_-8dup | |
| NM_000216.3:c.-13_-8dup | NP_000207.2:n.-13_-8dup | |
| XM_005274501.4:c.-13_-8dup | XP_005274558.1:n.-13_-8dup | |
| NM_000216.4:c.-13_-8dup MANE Select | NP_000207.2:n.-13_-8dup |