Linked Data
dbSNP Id:
rs121908080
gnomAD v2:
15-68504035-TTGA-T
gnomAD v3:
15-68211697-TTGA-T
gnomAD v4:
15-68211697-TTGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211703_68211705del , CM000677.2:g.68211703_68211705del | GRCh38 |
| NC_000015.9:g.68504041_68504043del , CM000677.1:g.68504041_68504043del | GRCh37 |
| NC_000015.8:g.66291095_66291097del | NCBI36 |
| NG_008764.2:g.50512_50514del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.461_463del MANE Select | ENSP00000249806.5:p.Ile154del | |
| ENST00000562767.2:c.84-14072_84-14070del | ENSP00000456336.1:n.84-14072_84-14070del | |
| ENST00000563917.2:n.303_305del | ||
| ENST00000565471.6:c.84-1941_84-1939del | ENSP00000457384.1:n.84-1941_84-1939del | |
| ENST00000635747.1:c.*364_*366del | ENSP00000490627.1:n.*364_*366del | |
| ENST00000636212.1:c.*12_*14del | ENSP00000489851.1:n.*12_*14del | |
| ENST00000636314.1:c.183-382_183-380del | ENSP00000490295.1:n.183-382_183-380del | |
| ENST00000636674.1:n.1444_1446del | ||
| ENST00000636964.1:n.1633_1635del | ||
| ENST00000637054.1:c.198+6836_198+6838del | ENSP00000490807.1:n.198+6836_198+6838del | |
| ENST00000637223.1:c.*201-382_*201-380del | ENSP00000490010.1:n.*201-382_*201-380del | |
| ENST00000637329.1:c.430_432del | ||
| ENST00000637450.1:c.*115_*117del | ENSP00000490204.1:n.*115_*117del | |
| ENST00000637494.1:c.199-382_199-380del | ENSP00000490057.1:n.199-382_199-380del | |
| ENST00000637667.1:c.362_364del | ENSP00000489843.1:p.Ile121del | |
| ENST00000637823.1:c.224-57_224-55del | ||
| ENST00000637888.1:c.198+6836_198+6838del | ENSP00000490546.1:n.198+6836_198+6838del | |
| ENST00000638076.1:c.461_463del | ENSP00000490373.1:p.Ile154del | |
| ENST00000638144.1:n.130-382_130-380del | ||
| ENST00000646164.1:c.38+6836_38+6838del | ||
| ENST00000249806.9:c.461_463del | ENSP00000249806.5:p.Ile154del | |
| ENST00000538696.5:c.557_559del | ENSP00000445770.1:p.Ile186del | |
| ENST00000562767.1:c.84-14072_84-14070del | ENSP00000456336.1:n.84-14072_84-14070del | |
| ENST00000563917.1:n.242_244del | ||
| ENST00000564752.1:c.461_463del | ENSP00000457822.1:p.Ile154del | |
| ENST00000565471.5:c.84-1941_84-1939del | ENSP00000457384.1:n.84-1941_84-1939del | |
| ENST00000566347.5:c.298-382_298-380del | ENSP00000457783.1:n.298-382_298-380del | |
| ENST00000567060.5:c.298-1980_298-1978del | ENSP00000454818.1:n.298-1980_298-1978del | |
| NM_017882.2:c.461_463del | NP_060352.1:p.Ile154del | |
| XR_931861.1:n.564_566del | ||
| NM_017882.3:c.461_463del MANE Select | NP_060352.1:p.Ile154del |