Linked Data
dbSNP Id:
rs1175187211
gnomAD v2:
13-101182549-C-CAG
gnomAD v3:
13-100530295-C-CAG
gnomAD v4:
13-100530295-C-CAG
MyVariant Identifiers:
chr13:g.101182549_101182550insAG (hg19)
chr13:g.100530295_100530296insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100530298_100530299dup , CM000675.2:g.100530298_100530299dup | GRCh38 |
| NC_000013.10:g.101182552_101182553dup , CM000675.1:g.101182552_101182553dup | GRCh37 |
| NC_000013.9:g.99980553_99980554dup | NCBI36 |
| NG_008768.1:g.446216_446217dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683975.1:c.*1833_*1834dup (GGACT) MANE Select | ENSP00000508020.1:n.*1833_*1834dup | |
| ENST00000376285.6:c.*132_*133dup (PCCA) MANE Select | ENSP00000365462.1:n.*132_*133dup | |
| ENST00000636366.1:c.1517_1518dup (PCCA) | ||
| ENST00000636475.1:c.1834_1835dup (PCCA) | ||
| ENST00000637657.1:c.1979_1980dup (PCCA) | ||
| ENST00000647303.1:c.*1803_*1804dup (PCCA) | ENSP00000495663.1:n.*1803_*1804dup | |
| ENST00000376250.6:c.*1833_*1834dup (GGACT) | ENSP00000365426.1:n.*1833_*1834dup | |
| ENST00000376279.7:c.*132_*133dup (PCCA) | ENSP00000365456.3:n.*132_*133dup | |
| ENST00000376285.5:c.*132_*133dup (PCCA) | ENSP00000365462.1:n.*132_*133dup | |
| ENST00000376286.8:c.*132_*133dup (PCCA) | ENSP00000365463.4:n.*132_*133dup | |
| ENST00000428969.1:c.468_469dup (PCCA) | ENSP00000399413.1:n.468_469dup | |
| ENST00000455100.2:c.*1833_*1834dup (GGACT) | ENSP00000410449.1:n.*1833_*1834dup | |
| ENST00000458283.5:c.535_536dup (PCCA) | ||
| NM_000282.3:c.*132_*133dup (PCCA) | NP_000273.2:n.*132_*133dup | |
| NM_001127692.2:c.*132_*133dup (PCCA) | NP_001121164.1:n.*132_*133dup | |
| NM_001178004.1:c.*132_*133dup (PCCA) | NP_001171475.1:n.*132_*133dup | |
| NM_001195087.1:c.*1833_*1834dup (GGACT) | NP_001182016.1:n.*1833_*1834dup | |
| NM_033110.2:c.*1833_*1834dup (GGACT) | NP_149101.1:n.*1833_*1834dup | |
| XR_931615.1:n.2176_2177dup (PCCA) | ||
| NM_001352605.1:c.*132_*133dup (PCCA) | NP_001339534.1:n.*132_*133dup | |
| NM_001352606.1:c.*132_*133dup (PCCA) | NP_001339535.1:n.*132_*133dup | |
| NM_001352607.1:c.*132_*133dup (PCCA) | NP_001339536.1:n.*132_*133dup | |
| NM_001352608.1:c.*132_*133dup (PCCA) | NP_001339537.1:n.*132_*133dup | |
| NM_001352610.1:c.*132_*133dup (PCCA) | NP_001339539.1:n.*132_*133dup | |
| NM_001352611.1:c.*132_*133dup (PCCA) | NP_001339540.1:n.*132_*133dup | |
| NM_001352612.1:c.*132_*133dup (PCCA) | NP_001339541.1:n.*132_*133dup | |
| NR_148027.1:n.2368_2369dup (PCCA) | ||
| NR_148028.1:n.2406_2407dup (PCCA) | ||
| NR_148029.1:n.2328_2329dup (PCCA) | ||
| NR_148030.1:n.2509_2510dup (PCCA) | ||
| NR_148031.1:n.2322_2323dup (PCCA) | ||
| XM_005254083.2:c.*1833_*1834dup (GGACT) | XP_005254140.1:n.*1833_*1834dup | |
| XM_011521129.3:c.*1833_*1834dup (GGACT) | XP_011519431.1:n.*1833_*1834dup | |
| XM_017020609.1:c.*132_*133dup (PCCA) | XP_016876098.1:n.*132_*133dup | |
| XM_017020613.1:c.*247_*248dup (PCCA) | XP_016876102.1:n.*247_*248dup | |
| XR_001749567.1:n.2499_2500dup (PCCA) | ||
| XR_001749568.1:n.2586_2587dup (PCCA) | ||
| XR_001749569.1:n.2445_2446dup (PCCA) | ||
| XR_001749576.1:n.2056_2057dup (PCCA) | ||
| XR_001749577.1:n.1953_1954dup (PCCA) | ||
| NM_000282.4:c.*132_*133dup (PCCA) MANE Select | NP_000273.2:n.*132_*133dup | |
| NM_001352605.2:c.*132_*133dup (PCCA) | NP_001339534.1:n.*132_*133dup | |
| NM_001352606.2:c.*132_*133dup (PCCA) | NP_001339535.1:n.*132_*133dup | |
| NM_001352607.2:c.*132_*133dup (PCCA) | NP_001339536.1:n.*132_*133dup | |
| NM_001352608.2:c.*132_*133dup (PCCA) | NP_001339537.1:n.*132_*133dup | |
| NM_001352610.2:c.*132_*133dup (PCCA) | NP_001339539.1:n.*132_*133dup | |
| NM_001352611.2:c.*132_*133dup (PCCA) | NP_001339540.1:n.*132_*133dup | |
| NM_001352612.2:c.*132_*133dup (PCCA) | NP_001339541.1:n.*132_*133dup | |
| NR_148027.2:n.2290_2291dup (PCCA) | ||
| NR_148028.2:n.2328_2329dup (PCCA) | ||
| NR_148029.2:n.2250_2251dup (PCCA) | ||
| NR_148030.2:n.2431_2432dup (PCCA) | ||
| NR_148031.2:n.2244_2245dup (PCCA) | ||
| NM_001127692.3:c.*132_*133dup (PCCA) | NP_001121164.1:n.*132_*133dup | |
| NM_001178004.2:c.*132_*133dup (PCCA) | NP_001171475.1:n.*132_*133dup | |
| NM_001195087.2:c.*1833_*1834dup (GGACT) MANE Select | NP_001182016.1:n.*1833_*1834dup | |
| NM_033110.3:c.*1833_*1834dup (GGACT) | NP_149101.1:n.*1833_*1834dup |