Linked Data
ClinVar Variation Id:
157671
ClinVar RCV Id:
RCV000144959
dbSNP Id:
rs606231293
PubMed:
PMID:16628197
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7571498_7571527dup , CM000668.2:g.7571498_7571527dup | GRCh38 |
| NC_000006.11:g.7571731_7571760dup , CM000668.1:g.7571731_7571760dup | GRCh37 |
| NC_000006.10:g.7516730_7516759dup | NCBI36 |
| NG_008803.1:g.34862_34891dup , LRG_423:g.34862_34891dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710359.1:c.1817_1846dup | ENSP00000518230.1:p.Ala615_Gln616insArgLy... | |
| ENST00000684395.1:n.201_230dup | ||
| ENST00000379802.8:c.1817_1846dup MANE Select | ENSP00000369129.3:p.Ala615_Gln616insArgLy... | |
| ENST00000379802.7:c.1817_1846dup | ENSP00000369129.3:p.Ala615_Gln616insArgLy... | |
| ENST00000418664.2:c.1817_1846dup | ENSP00000396591.2:p.Ala615_Gln616insArgLy... | |
| NM_001008844.1:c.1817_1846dup | NP_001008844.1:p.Ala615_Gln616insArgLysIl... | |
| NM_004415.2:c.1817_1846dup , LRG_423t1:c.1817_1846dup | NP_004406.2:p.Ala615_Gln616insArgLysIleGl... | |
| XM_011514323.1:c.1817_1846dup | XP_011512625.1:p.Ala615_Gln616insArgLysIl... | |
| NM_001008844.2:c.1817_1846dup | NP_001008844.1:p.Ala615_Gln616insArgLysIl... | |
| NM_001319034.1:c.1817_1846dup | NP_001305963.1:p.Ala615_Gln616insArgLysIl... | |
| NM_004415.3:c.1817_1846dup | NP_004406.2:p.Ala615_Gln616insArgLysIleGl... | |
| NM_004415.4:c.1817_1846dup MANE Select | NP_004406.2:p.Ala615_Gln616insArgLysIleGl... | |
| NM_001008844.3:c.1817_1846dup | NP_001008844.1:p.Ala615_Gln616insArgLysIl... | |
| NM_001319034.2:c.1817_1846dup | NP_001305963.1:p.Ala615_Gln616insArgLysIl... |