Linked Data
dbSNP Id:
rs1179936463
gnomAD v4:
X-154379595-G-GGGCCCCCTCCTC
MyVariant Identifiers:
chrX:g.154379595_154379596insGGCCCCCTCCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379597_154379608dup , CM000685.2:g.154379597_154379608dup | GRCh38 |
| NC_000023.10:g.153607957_153607968dup , CM000685.1:g.153607957_153607968dup | GRCh37 |
| NC_000023.9:g.153261151_153261162dup | NCBI36 |
| NG_008677.1:g.10162_10173dup , LRG_745:g.10162_10173dup | |
| NG_011506.1:g.40_51dup | |
| NG_011506.2:g.32_43dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.82+31_82+42dup | ENSP00000507245.1:n.82+31_82+42dup | |
| ENST00000682478.1:n.58+31_58+42dup | ||
| ENST00000683576.1:n.58+31_58+42dup | ||
| ENST00000683627.1:c.82+31_82+42dup | ENSP00000507533.1:n.82+31_82+42dup | |
| ENST00000684082.1:c.82+31_82+42dup | ENSP00000508266.1:n.82+31_82+42dup | |
| ENST00000684633.1:n.54+35_54+46dup | ||
| ENST00000684678.1:c.78+35_78+46dup | ENSP00000507059.1:n.78+35_78+46dup | |
| ENST00000369842.9:c.82+31_82+42dup MANE Select | ENSP00000358857.4:n.82+31_82+42dup | |
| ENST00000369835.3:c.82+31_82+42dup | ENSP00000358850.3:n.82+31_82+42dup | |
| ENST00000369842.8:c.82+31_82+42dup | ENSP00000358857.4:n.82+31_82+42dup | |
| ENST00000428228.5:c.53+60_53+71dup | ENSP00000401081.1:n.53+60_53+71dup | |
| ENST00000468294.5:n.42+31_42+42dup | ||
| ENST00000485261.1:n.163+31_163+42dup | ||
| ENST00000486738.5:n.226+31_226+42dup | ||
| ENST00000494443.5:n.139+31_139+42dup | ||
| NM_000117.2:c.82+31_82+42dup , LRG_745t1:c.82+31_82+42dup | NP_000108.1:n.82+31_82+42dup | |
| XM_024452349.1:c.-127+31_-127+42dup | XP_024308117.1:n.-127+31_-127+42dup | |
| NM_000117.3:c.82+31_82+42dup MANE Select | NP_000108.1:n.82+31_82+42dup |