Linked Data
dbSNP Id:
rs535609436
gnomAD v3:
17-7221411-C-CAGGTCAGGCACTGCCCT
gnomAD v4:
17-7221411-C-CAGGTCAGGCACTGCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221420_7221436dup , CM000679.2:g.7221420_7221436dup | GRCh38 |
| NC_000017.10:g.7124739_7124755dup , CM000679.1:g.7124739_7124755dup | GRCh37 |
| NC_000017.9:g.7065463_7065479dup | NCBI36 |
| NG_007975.1:g.6587_6603dup | |
| NG_008391.2:g.3623_3639dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.478-118_478-102dup MANE Select | ENSP00000349297.5:n.478-118_478-102dup | |
| ENST00000322910.9:c.*433-118_*433-102dup | ENSP00000325395.5:n.*433-118_*433-102dup | |
| ENST00000350303.9:c.412-118_412-102dup | ENSP00000344152.5:n.412-118_412-102dup | |
| ENST00000356839.9:c.478-118_478-102dup | ENSP00000349297.5:n.478-118_478-102dup | |
| ENST00000543245.6:c.547-118_547-102dup | ENSP00000438689.2:n.547-118_547-102dup | |
| ENST00000577191.5:n.555-118_555-102dup | ||
| ENST00000577433.5:n.686-118_686-102dup | ||
| ENST00000577857.5:n.294-118_294-102dup | ||
| ENST00000579286.5:n.659-118_659-102dup | ||
| ENST00000579886.2:c.316-118_316-102dup | ENSP00000463246.1:n.316-118_316-102dup | |
| ENST00000580365.1:n.209-118_209-102dup | ||
| ENST00000581378.5:c.177-99_177-83dup | ||
| ENST00000581562.5:n.524+362_524+378dup | ||
| ENST00000582166.1:n.459-118_459-102dup | ||
| ENST00000583312.5:c.478-118_478-102dup | ENSP00000467920.1:n.478-118_478-102dup | |
| ENST00000583760.1:n.142_158dup | ||
| NM_000018.3:c.478-118_478-102dup | NP_000009.1:n.478-118_478-102dup | |
| NM_001033859.2:c.412-118_412-102dup | NP_001029031.1:n.412-118_412-102dup | |
| NM_001270447.1:c.547-118_547-102dup | NP_001257376.1:n.547-118_547-102dup | |
| NM_001270448.1:c.250-118_250-102dup | NP_001257377.1:n.250-118_250-102dup | |
| XM_006721516.2:c.478-118_478-102dup | XP_006721579.2:n.478-118_478-102dup | |
| XM_011523829.1:c.478-118_478-102dup | XP_011522131.1:n.478-118_478-102dup | |
| XM_011523830.1:c.478-118_478-102dup | XP_011522132.1:n.478-118_478-102dup | |
| XR_934021.1:n.585-118_585-102dup | ||
| XR_934022.1:n.585-118_585-102dup | ||
| XR_934023.1:n.585-118_585-102dup | ||
| XM_006721516.3:c.478-118_478-102dup | XP_006721579.2:n.478-118_478-102dup | |
| XM_011523829.2:c.478-118_478-102dup | XP_011522131.1:n.478-118_478-102dup | |
| XM_011523830.2:c.478-118_478-102dup | XP_011522132.1:n.478-118_478-102dup | |
| XM_024450741.1:c.478-118_478-102dup | XP_024306509.1:n.478-118_478-102dup | |
| XR_934021.2:n.537-118_537-102dup | ||
| XR_934022.2:n.537-118_537-102dup | ||
| XR_934023.2:n.537-118_537-102dup | ||
| NM_000018.4:c.478-118_478-102dup MANE Select | NP_000009.1:n.478-118_478-102dup | |
| NM_001033859.3:c.412-118_412-102dup | NP_001029031.1:n.412-118_412-102dup | |
| NM_001270447.2:c.547-118_547-102dup | NP_001257376.1:n.547-118_547-102dup | |
| NM_001270448.2:c.250-118_250-102dup | NP_001257377.1:n.250-118_250-102dup |