Linked Data
dbSNP Id:
rs770357135
ExAC:
12:351786 TCC / T
gnomAD v2:
12-351786-TCC-T
gnomAD v4:
12-242620-TCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.242621_242622del , CM000674.2:g.242621_242622del | GRCh38 |
| NC_000012.11:g.351787_351788del , CM000674.1:g.351787_351788del | GRCh37 |
| NC_000012.10:g.222048_222049del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343164.9:c.470_471del MANE Select | ENSP00000339260.4:p.Trp157Ter | |
| ENST00000343164.8:c.470_471del | ENSP00000339260.4:p.Trp157Ter | |
| ENST00000445055.6:c.203-4612_203-4611del | ENSP00000407104.2:n.203-4612_203-4611del | |
| ENST00000536842.5:n.523_524del | ||
| ENST00000539260.1:c.*109_*110del | ENSP00000437386.1:n.*109_*110del | |
| ENST00000542272.5:c.113_114del | ENSP00000443466.1:p.Trp38Ter | |
| ENST00000546319.5:c.203-4612_203-4611del | ENSP00000444606.1:n.203-4612_203-4611del | |
| NM_001190997.2:c.203-4612_203-4611del | NP_001177926.1:n.203-4612_203-4611del | |
| NM_016615.4:c.470_471del | NP_057699.2:p.Trp157Ter | |
| XM_005253749.2:c.536_537del | XP_005253806.1:p.Trp179Ter | |
| XM_011521012.1:c.113_114del | XP_011519314.1:p.Trp38Ter | |
| XM_011521013.1:c.-190_-189del | XP_011519315.1:n.-190_-189del | |
| XM_011521014.1:c.-190_-189del | XP_011519316.1:n.-190_-189del | |
| XM_011521012.2:c.113_114del | XP_011519314.1:p.Trp38Ter | |
| XM_017019844.1:c.470_471del | XP_016875333.1:p.Trp157Ter | |
| XM_017019846.1:c.470_471del | XP_016875335.1:p.Trp157Ter | |
| XM_017019847.1:c.470_471del | XP_016875336.1:p.Trp157Ter | |
| XR_001748849.1:n.523_524del | ||
| XR_002957372.1:n.523_524del | ||
| NM_016615.5:c.470_471del MANE Select | NP_057699.2:p.Trp157Ter | |
| NM_001190997.3:c.203-4612_203-4611del | NP_001177926.1:n.203-4612_203-4611del |