Linked Data
ClinVar Variation Id:
1998
ClinVar RCV Id:
RCV000002075
dbSNP Id:
rs796065026
MyVariant Identifiers:
chr17:g.73831584dupA (hg19)
chr17:g.73831583_73831584insA (hg19)
chr17:g.75835503dupA (hg38)
chr17:g.75835502_75835503insA (hg38)
PubMed:
PMID:14622600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75835505dup , CM000679.2:g.75835505dup | GRCh38 |
| NC_000017.10:g.73831586dup , CM000679.1:g.73831586dup | GRCh37 |
| NC_000017.9:g.71343181dup | NCBI36 |
| NG_007266.1:g.14215dup , LRG_122:g.14215dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699510.1:c.689dup | ENSP00000514405.1:p.His231ProfsTer? | |
| ENST00000207549.9:c.1754dup MANE Select | ENSP00000207549.3:p.His586ProfsTer? | |
| ENST00000207549.8:c.1754dup | ENSP00000207549.3:p.His586ProfsTer? | |
| ENST00000412096.6:c.1754dup | ENSP00000388093.1:p.His586ProfsTer? | |
| ENST00000586147.1:c.482dup | ENSP00000466543.1:p.His162ProfsTer? | |
| ENST00000591563.5:n.2024dup | ||
| NM_199242.2:c.1754dup , LRG_122t1:c.1754dup | NP_954712.1:p.His586ProfsTer? | |
| XM_011524504.1:c.1754dup | XP_011522806.1:p.His586ProfsTer? | |
| XM_011524505.1:c.1754dup | XP_011522807.1:p.His586ProfsTer? | |
| XM_011524506.1:c.1751dup | XP_011522808.1:p.His585ProfsTer? | |
| XM_011524507.1:c.1145dup | XP_011522809.1:p.His383ProfsTer? | |
| XM_011524508.1:c.1145dup | XP_011522810.1:p.His383ProfsTer? | |
| XM_011524504.2:c.1754dup | XP_011522806.1:p.His586ProfsTer? | |
| XM_011524507.2:c.1145dup | XP_011522809.1:p.His383ProfsTer? | |
| XM_024450640.1:c.1145dup | XP_024306408.1:p.His383ProfsTer? | |
| NM_199242.3:c.1754dup MANE Select | NP_954712.1:p.His586ProfsTer? |