Linked Data
dbSNP Id:
rs1236523327
gnomAD v3:
4-1805515-G-GGGCGCC
gnomAD v4:
4-1805515-G-GGGCGCC
MyVariant Identifiers:
chr4:g.1807242_1807243insGGCGCC (hg19)
chr4:g.1805515_1805516insGGCGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1805517_1805522dup , CM000666.2:g.1805517_1805522dup | GRCh38 |
| NC_000004.11:g.1807244_1807249dup , CM000666.1:g.1807244_1807249dup | GRCh37 |
| NC_000004.10:g.1777042_1777047dup | NCBI36 |
| NG_012632.1:g.17206_17211dup , LRG_1021:g.17206_17211dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1541-42_1541-37dup | ENSP00000339824.4:n.1541-42_1541-37dup | |
| ENST00000260795.8:c.*591-42_*591-37dup | ENSP00000260795.3:n.*591-42_*591-37dup | |
| ENST00000352904.6:c.1199-42_1199-37dup | ENSP00000231803.1:n.1199-42_1199-37dup | |
| ENST00000412135.7:c.1523-42_1523-37dup | ENSP00000412903.3:n.1523-42_1523-37dup | |
| ENST00000440486.8:c.1535-42_1535-37dup MANE Select | ENSP00000414914.2:n.1535-42_1535-37dup | |
| ENST00000481110.7:c.1538-42_1538-37dup | ENSP00000420533.2:n.1538-42_1538-37dup | |
| ENST00000260795.6:c.1535-42_1535-37dup | ENSP00000260795.2:n.1535-42_1535-37dup | |
| ENST00000340107.8:c.1541-42_1541-37dup | ENSP00000339824.4:n.1541-42_1541-37dup | |
| ENST00000352904.5:c.1199-42_1199-37dup | ENSP00000231803.1:n.1199-42_1199-37dup | |
| ENST00000412135.6:c.1199-42_1199-37dup | ENSP00000412903.2:n.1199-42_1199-37dup | |
| ENST00000440486.6:c.1535-42_1535-37dup | ENSP00000414914.2:n.1535-42_1535-37dup | |
| ENST00000469068.1:n.601-42_601-37dup | ||
| ENST00000481110.6:c.1538-42_1538-37dup | ENSP00000420533.2:n.1538-42_1538-37dup | |
| ENST00000613647.4:c.*591-42_*591-37dup | ENSP00000479472.1:n.*591-42_*591-37dup | |
| NM_000142.4:c.1535-42_1535-37dup , LRG_1021t1:c.1535-42_1535-37dup | NP_000133.1:n.1535-42_1535-37dup | |
| NM_001163213.1:c.1541-42_1541-37dup , LRG_1021t2:c.1541-42_1541-37dup | NP_001156685.1:n.1541-42_1541-37dup | |
| NM_022965.3:c.1199-42_1199-37dup | NP_075254.1:n.1199-42_1199-37dup | |
| XM_006713868.1:c.1547-42_1547-37dup | XP_006713931.1:n.1547-42_1547-37dup | |
| XM_006713869.1:c.1547-42_1547-37dup | XP_006713932.1:n.1547-42_1547-37dup | |
| XM_006713870.1:c.1544-42_1544-37dup | XP_006713933.1:n.1544-42_1544-37dup | |
| XM_006713871.1:c.1541-42_1541-37dup | XP_006713934.1:n.1541-42_1541-37dup | |
| XM_006713872.1:c.1538-42_1538-37dup | XP_006713935.1:n.1538-42_1538-37dup | |
| XM_006713873.1:c.1535-42_1535-37dup | XP_006713936.1:n.1535-42_1535-37dup | |
| XM_011513420.1:c.1541-42_1541-37dup | XP_011511722.1:n.1541-42_1541-37dup | |
| XM_011513422.1:c.1538-42_1538-37dup | XP_011511724.1:n.1538-42_1538-37dup | |
| NM_001354809.1:c.1538-42_1538-37dup | NP_001341738.1:n.1538-42_1538-37dup | |
| NM_001354810.1:c.1538-42_1538-37dup | NP_001341739.1:n.1538-42_1538-37dup | |
| NR_148971.1:n.1942-42_1942-37dup | ||
| NM_001354809.2:c.1538-42_1538-37dup | NP_001341738.1:n.1538-42_1538-37dup | |
| NM_001354810.2:c.1538-42_1538-37dup | NP_001341739.1:n.1538-42_1538-37dup | |
| NR_148971.2:n.1961-42_1961-37dup | ||
| NM_000142.5:c.1535-42_1535-37dup MANE Select | NP_000133.1:n.1535-42_1535-37dup | |
| NM_001163213.2:c.1541-42_1541-37dup | NP_001156685.1:n.1541-42_1541-37dup | |
| NM_022965.4:c.1199-42_1199-37dup | NP_075254.1:n.1199-42_1199-37dup |