Linked Data
dbSNP Id:
rs1335130845
gnomAD v3:
15-28208184-T-TAATTTCATAA
gnomAD v4:
15-28208184-T-TAATTTCATAA
MyVariant Identifiers:
chr15:g.28453330_28453331insAATTTCATAA (hg19)
chr15:g.28208184_28208185insAATTTCATAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28208185_28208194dup , CM000677.2:g.28208185_28208194dup | GRCh38 |
| NC_000015.9:g.28453331_28453340dup , CM000677.1:g.28453331_28453340dup | GRCh37 |
| NC_000015.8:g.26126926_26126935dup | NCBI36 |
| NG_016355.1:g.118956_118965dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.7070-1812_7070-1803dup MANE Select | ENSP00000261609.8:n.7070-1812_7070-1803dup | |
| ENST00000261609.11:c.7070-1812_7070-1803dup | ENSP00000261609.7:n.7070-1812_7070-1803dup | |
| NM_004667.5:c.7070-1812_7070-1803dup | NP_004658.3:n.7070-1812_7070-1803dup | |
| XM_005268276.3:c.6956-1812_6956-1803dup | XP_005268333.1:n.6956-1812_6956-1803dup | |
| XM_005268277.3:c.6956-1812_6956-1803dup | XP_005268334.1:n.6956-1812_6956-1803dup | |
| XM_006720726.2:c.7055-1812_7055-1803dup | XP_006720789.1:n.7055-1812_7055-1803dup | |
| XM_006720727.2:c.6812-1812_6812-1803dup | XP_006720790.1:n.6812-1812_6812-1803dup | |
| XM_011522131.1:c.6587-1812_6587-1803dup | XP_011520433.1:n.6587-1812_6587-1803dup | |
| XM_011522132.1:c.4586-1812_4586-1803dup | XP_011520434.1:n.4586-1812_4586-1803dup | |
| XM_011522133.1:c.3815-1812_3815-1803dup | XP_011520435.1:n.3815-1812_3815-1803dup | |
| XM_011522134.1:c.1187-1812_1187-1803dup | XP_011520436.1:n.1187-1812_1187-1803dup | |
| XM_011522135.1:c.7070-1812_7070-1803dup | XP_011520437.1:n.7070-1812_7070-1803dup | |
| XM_011522136.1:c.7070-1812_7070-1803dup | XP_011520438.1:n.7070-1812_7070-1803dup | |
| XM_011522137.1:c.7070-1812_7070-1803dup | XP_011520439.1:n.7070-1812_7070-1803dup | |
| XR_931930.1:n.7199-1812_7199-1803dup | ||
| XR_931931.1:n.7199-1812_7199-1803dup | ||
| XM_005268276.5:c.6956-1812_6956-1803dup | XP_005268333.1:n.6956-1812_6956-1803dup | |
| XM_006720726.3:c.7055-1812_7055-1803dup | XP_006720789.1:n.7055-1812_7055-1803dup | |
| XM_006720727.3:c.6812-1812_6812-1803dup | XP_006720790.1:n.6812-1812_6812-1803dup | |
| XM_017022695.1:c.6956-1812_6956-1803dup | XP_016878184.1:n.6956-1812_6956-1803dup | |
| XM_017022696.1:c.6956-1812_6956-1803dup | XP_016878185.1:n.6956-1812_6956-1803dup | |
| XM_017022697.1:c.236-1812_236-1803dup | XP_016878186.1:n.236-1812_236-1803dup | |
| XM_017022698.1:c.236-1812_236-1803dup | XP_016878187.1:n.236-1812_236-1803dup | |
| XR_001751410.1:n.7200-1812_7200-1803dup | ||
| XR_931930.2:n.7200-1812_7200-1803dup | ||
| NM_004667.6:c.7070-1812_7070-1803dup MANE Select | NP_004658.3:n.7070-1812_7070-1803dup |