Linked Data
dbSNP Id:
rs1415464144
gnomAD v2:
X-19378041-A-ATGCC
gnomAD v3:
X-19359923-A-ATGCC
gnomAD v4:
X-19359923-A-ATGCC
MyVariant Identifiers:
chrX:g.19378041_19378042insTGCC (hg19)
chrX:g.19359923_19359924insTGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359926_19359929dup , CM000685.2:g.19359926_19359929dup | GRCh38 |
| NC_000023.10:g.19378044_19378047dup , CM000685.1:g.19378044_19378047dup | GRCh37 |
| NC_000023.9:g.19287965_19287968dup | NCBI36 |
| NG_016781.1:g.21034_21037dup | |
| NG_021184.1:g.160335_160338dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.*273_*276dup | ENSP00000348062.6:n.*273_*276dup | |
| ENST00000423505.6:c.*273_*276dup | ENSP00000406473.2:n.*273_*276dup | |
| ENST00000696704.1:c.*778_*781dup | ENSP00000512823.1:n.*778_*781dup | |
| ENST00000696705.1:c.*901_*904dup | ENSP00000512824.1:n.*901_*904dup | |
| ENST00000422285.7:c.*273_*276dup MANE Select | ENSP00000394382.2:n.*273_*276dup | |
| ENST00000379806.9:c.*273_*276dup | ENSP00000369134.5:n.*273_*276dup | |
| ENST00000422285.6:c.*273_*276dup | ENSP00000394382.2:n.*273_*276dup | |
| ENST00000540249.5:c.*273_*276dup | ENSP00000440761.1:n.*273_*276dup | |
| ENST00000545074.5:c.*273_*276dup | ENSP00000438550.1:n.*273_*276dup | |
| NM_000284.3:c.*273_*276dup | NP_000275.1:n.*273_*276dup | |
| NM_001173454.1:c.*273_*276dup | NP_001166925.1:n.*273_*276dup | |
| NM_001173455.1:c.*273_*276dup | NP_001166926.1:n.*273_*276dup | |
| NM_001173456.1:c.*273_*276dup | NP_001166927.1:n.*273_*276dup | |
| XM_011545531.1:c.*273_*276dup | XP_011543833.1:n.*273_*276dup | |
| XM_011545532.1:c.*273_*276dup | XP_011543834.1:n.*273_*276dup | |
| NM_000284.4:c.*273_*276dup MANE Select | NP_000275.1:n.*273_*276dup | |
| NM_001173454.2:c.*273_*276dup | NP_001166925.1:n.*273_*276dup | |
| NM_001173455.2:c.*273_*276dup | NP_001166926.1:n.*273_*276dup | |
| NM_001173456.2:c.*273_*276dup | NP_001166927.1:n.*273_*276dup |