ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43349337_43349338delinsAA , CM000663.2:g.43349337_43349338delinsAA | GRCh38 |
| NC_000001.10:g.43815008_43815009delinsAA , CM000663.1:g.43815008_43815009delinsAA | GRCh37 |
| NC_000001.9:g.43587595_43587596delinsAA | NCBI36 |
| NG_007525.1:g.16534_16535delinsAA , LRG_510:g.16534_16535delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1543_1544delinsAA MANE Select | ENSP00000361548.3:p.Trp515Lys | |
| ENST00000413998.7:c.1522_1523delinsAA | ENSP00000414004.3:p.Trp508Lys | |
| ENST00000638732.1:n.1543_1544delinsAA | ||
| ENST00000643351.1:c.75_76delinsAA | ||
| ENST00000372470.7:c.1543_1544delinsAA | ENSP00000361548.3:p.Trp515Lys | |
| ENST00000413998.6:c.1543_1544delinsAA | ENSP00000414004.2:p.Trp515Lys | |
| ENST00000612993.1:c.1543_1544delinsAA | ENSP00000480273.1:p.Trp515Lys | |
| NM_005373.2:c.1543_1544delinsAA , LRG_510t1:c.1543_1544delinsAA | NP_005364.1:p.Trp515Lys | |
| XM_011541478.1:c.1522_1523delinsAA | XP_011539780.1:p.Trp508Lys | |
| XM_017001320.1:c.1714_1715delinsAA | XP_016856809.1:p.Trp572Lys | |
| NM_005373.3:c.1543_1544delinsAA MANE Select | NP_005364.1:p.Trp515Lys |