Linked Data
dbSNP Id:
rs2093226077
gnomAD v3:
15-68218281-T-TACAGTATG
gnomAD v4:
15-68218281-T-TACAGTATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68218284_68218291dup , CM000677.2:g.68218284_68218291dup | GRCh38 |
| NC_000015.9:g.68510622_68510629dup , CM000677.1:g.68510622_68510629dup | GRCh37 |
| NC_000015.8:g.66297676_66297683dup | NCBI36 |
| NG_008764.2:g.43923_43930dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.198+247_198+254dup MANE Select | ENSP00000249806.5:n.198+247_198+254dup | |
| ENST00000562767.2:c.83+11213_83+11220dup | ENSP00000456336.1:n.83+11213_83+11220dup | |
| ENST00000563917.2:n.41-3901_41-3894dup | ||
| ENST00000565471.6:c.84-8530_84-8523dup | ENSP00000457384.1:n.84-8530_84-8523dup | |
| ENST00000569336.2:n.354_361dup | ||
| ENST00000635747.1:c.*101+247_*101+254dup | ENSP00000490627.1:n.*101+247_*101+254dup | |
| ENST00000636020.1:n.330+247_330+254dup | ||
| ENST00000636212.1:c.198+247_198+254dup | ENSP00000489851.1:n.198+247_198+254dup | |
| ENST00000636314.1:c.84-3901_84-3894dup | ENSP00000490295.1:n.84-3901_84-3894dup | |
| ENST00000637054.1:c.198+247_198+254dup | ENSP00000490807.1:n.198+247_198+254dup | |
| ENST00000637223.1:c.*101+247_*101+254dup | ENSP00000490010.1:n.*101+247_*101+254dup | |
| ENST00000637329.1:c.109+247_109+254dup | ||
| ENST00000637450.1:c.84-3901_84-3894dup | ENSP00000490204.1:n.84-3901_84-3894dup | |
| ENST00000637494.1:c.198+247_198+254dup | ENSP00000490057.1:n.198+247_198+254dup | |
| ENST00000637667.1:c.198+247_198+254dup | ENSP00000489843.1:n.198+247_198+254dup | |
| ENST00000637823.1:c.124+247_124+254dup | ||
| ENST00000637888.1:c.198+247_198+254dup | ENSP00000490546.1:n.198+247_198+254dup | |
| ENST00000638076.1:c.198+247_198+254dup | ENSP00000490373.1:n.198+247_198+254dup | |
| ENST00000638144.1:n.31-3901_31-3894dup | ||
| ENST00000646164.1:c.38+247_38+254dup | ||
| ENST00000249806.9:c.198+247_198+254dup | ENSP00000249806.5:n.198+247_198+254dup | |
| ENST00000538696.5:c.294+247_294+254dup | ENSP00000445770.1:n.294+247_294+254dup | |
| ENST00000562767.1:c.83+11213_83+11220dup | ENSP00000456336.1:n.83+11213_83+11220dup | |
| ENST00000564752.1:c.198+247_198+254dup | ENSP00000457822.1:n.198+247_198+254dup | |
| ENST00000564846.1:n.630+247_630+254dup | ||
| ENST00000565471.5:c.84-8530_84-8523dup | ENSP00000457384.1:n.84-8530_84-8523dup | |
| ENST00000566347.5:c.198+247_198+254dup | ENSP00000457783.1:n.198+247_198+254dup | |
| ENST00000567060.5:c.198+247_198+254dup | ENSP00000454818.1:n.198+247_198+254dup | |
| ENST00000569336.1:n.353+178_353+185dup | ||
| NM_017882.2:c.198+247_198+254dup | NP_060352.1:n.198+247_198+254dup | |
| XR_931861.1:n.301+247_301+254dup | ||
| NM_017882.3:c.198+247_198+254dup MANE Select | NP_060352.1:n.198+247_198+254dup |