Linked Data
ClinVar Variation Id:
373820
ClinVar RCV Id:
RCV000414714
dbSNP Id:
rs1057518633
MyVariant Identifiers:
chrX:g.48547300_48547307dupCCACCACC (hg19)
chrX:g.48688911_48688918dupCCACCACC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688911_48688918dup , CM000685.2:g.48688911_48688918dup | GRCh38 |
| NC_000023.10:g.48547300_48547307dup , CM000685.1:g.48547300_48547307dup | GRCh37 |
| NC_000023.9:g.48432244_48432251dup | NCBI36 |
| NG_007877.1:g.10115_10122dup , LRG_125:g.10115_10122dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474174.2:n.427_434dup | ||
| ENST00000698625.1:c.1183_1190dup | ENSP00000513844.1:p.Pro398HisfsTer? | |
| ENST00000698626.1:c.1183_1190dup | ENSP00000513845.1:p.Pro398HisfsTer? | |
| ENST00000698635.1:c.1183_1190dup | ENSP00000513850.1:p.Pro398HisfsTer? | |
| ENST00000376701.5:c.1183_1190dup MANE Select | ENSP00000365891.4:p.Pro398HisfsTer? | |
| ENST00000376701.4:c.1183_1190dup | ENSP00000365891.4:p.Pro398HisfsTer? | |
| ENST00000474174.1:n.427_434dup | ||
| NM_000377.2:c.1183_1190dup , LRG_125t1:c.1183_1190dup | NP_000368.1:p.Pro398HisfsTer? | |
| XM_011543977.1:c.1027_1034dup | XP_011542279.1:p.Pro346HisfsTer? | |
| XM_011543977.2:c.1027_1034dup | XP_011542279.1:p.Pro346HisfsTer? | |
| XM_017029786.1:c.1183_1190dup | XP_016885275.1:p.Pro398HisfsTer? | |
| NM_000377.3:c.1183_1190dup MANE Select | NP_000368.1:p.Pro398HisfsTer? |