Linked Data
dbSNP Id:
rs1293618668
MyVariant Identifiers:
chr1:g.17444924_17444925insCCGTCCCA (hg19)
chr1:g.17118429_17118430insCCGTCCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17118430_17118437dup , CM000663.2:g.17118430_17118437dup | GRCh38 |
| NC_000001.10:g.17444925_17444932dup , CM000663.1:g.17444925_17444932dup | GRCh37 |
| NC_000001.9:g.17317512_17317519dup | NCBI36 |
| NG_033958.1:g.6017_6024dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375486.9:c.92+843_92+850dup MANE Select | ENSP00000364635.4:n.92+843_92+850dup | |
| ENST00000375481.1:c.92+843_92+850dup | ENSP00000364630.1:n.92+843_92+850dup | |
| ENST00000375486.8:c.92+843_92+850dup | ENSP00000364635.4:n.92+843_92+850dup | |
| NM_007365.2:c.92+843_92+850dup | NP_031391.2:n.92+843_92+850dup | |
| XM_011540549.1:c.92+843_92+850dup | XP_011538851.1:n.92+843_92+850dup | |
| XR_947004.1:n.5006_5013dup | ||
| XR_001736944.1:n.174+843_174+850dup | ||
| NM_007365.3:c.92+843_92+850dup MANE Select | NP_031391.2:n.92+843_92+850dup |