Linked Data
dbSNP Id:
rs1557271058
gnomAD v2:
X-154065992-C-CA
gnomAD v4:
X-154837717-C-CA
MyVariant Identifiers:
chrX:g.154065992_154065993insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837718dup , CM000685.2:g.154837718dup | GRCh38 |
| NC_000023.10:g.154065993dup , CM000685.1:g.154065993dup | GRCh37 |
| NC_000023.9:g.153719187dup | NCBI36 |
| NG_011403.1:g.190006dup | |
| NG_033065.1:g.1945dup | |
| NG_011403.2:g.190006dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6935dup MANE Select | ENSP00000353393.4:p.Val2313GlyfsTer? | |
| ENST00000644698.1:c.668dup | ENSP00000495706.1:p.Val224GlyfsTer? | |
| ENST00000330287.10:c.530dup | ENSP00000327895.6:p.Val178GlyfsTer? | |
| ENST00000360256.8:c.6935dup | ENSP00000353393.4:p.Val2313GlyfsTer? | |
| NM_000132.3:c.6935dup | NP_000123.1:p.Val2313GlyfsTer? | |
| NM_019863.2:c.530dup | NP_063916.1:p.Val178GlyfsTer? | |
| XM_011531126.1:c.6830dup | XP_011529428.1:p.Val2278GlyfsTer? | |
| NM_000132.4:c.6935dup MANE Select | NP_000123.1:p.Val2313GlyfsTer? | |
| NM_019863.3:c.530dup | NP_063916.1:p.Val178GlyfsTer? |