ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17181903_17181904delinsGC , CM000684.2:g.17181903_17181904delinsGC | GRCh38 |
| NC_000022.10:g.17662793_17662794delinsGC , CM000684.1:g.17662793_17662794delinsGC | GRCh37 |
| NC_000022.9:g.16042793_16042794delinsGC | NCBI36 |
| NG_033943.1:g.44951_44952delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330232.9:c.635_636delinsGC | ENSP00000332871.4:p.Tyr212Cys | |
| ENST00000449907.8:c.1232_1233delinsGC | ENSP00000406443.2:p.Tyr411Cys | |
| ENST00000469063.2:n.1246_1247delinsGC | ||
| ENST00000543038.2:c.1358_1359delinsGC | ENSP00000442482.2:p.Tyr453Cys | |
| ENST00000610390.5:c.998_999delinsGC | ENSP00000483418.1:p.Tyr333Cys | |
| ENST00000648061.2:c.*334_*335delinsGC | ENSP00000496894.1:n.*334_*335delinsGC | |
| ENST00000649310.2:c.1358_1359delinsGC | ENSP00000496839.2:p.Tyr453Cys | |
| ENST00000649746.2:c.1358_1359delinsGC | ENSP00000497913.2:p.Tyr453Cys | |
| ENST00000649915.2:c.*2480_*2481delinsGC | ENSP00000497681.2:n.*2480_*2481delinsGC | |
| ENST00000696196.1:c.1358_1359delinsGC | ENSP00000512479.1:p.Tyr453Cys | |
| ENST00000696197.1:c.1358_1359delinsGC | ENSP00000512480.1:p.Tyr453Cys | |
| ENST00000696218.1:n.470_471delinsGC | ||
| ENST00000696220.1:c.584_585delinsGC | ENSP00000512486.1:p.Tyr195Cys | |
| ENST00000696221.1:c.605_606delinsGC | ENSP00000512487.1:p.Tyr202Cys | |
| ENST00000696222.1:c.605_606delinsGC | ENSP00000512488.1:p.Tyr202Cys | |
| ENST00000696223.1:c.605_606delinsGC | ENSP00000512489.1:p.Tyr202Cys | |
| ENST00000696224.1:c.752_753delinsGC | ENSP00000512490.1:p.Tyr251Cys | |
| ENST00000696225.1:c.1358_1359delinsGC | ENSP00000512491.1:p.Tyr453Cys | |
| ENST00000399837.8:c.1358_1359delinsGC MANE Select | ENSP00000382731.2:p.Tyr453Cys | |
| ENST00000449907.7:c.1232_1233delinsGC | ENSP00000406443.2:p.Tyr411Cys | |
| ENST00000648061.1:c.*334_*335delinsGC | ENSP00000496894.1:n.*334_*335delinsGC | |
| ENST00000648668.1:n.796_797delinsGC | ||
| ENST00000649540.1:c.1232_1233delinsGC | ENSP00000497469.1:p.Tyr411Cys | |
| ENST00000649915.1:c.2871_2872delinsGC | ||
| ENST00000262607.3:c.1358_1359delinsGC | ENSP00000262607.2:p.Tyr453Cys | |
| ENST00000330232.8:c.635_636delinsGC | ENSP00000332871.4:p.Tyr212Cys | |
| ENST00000399837.6:c.1358_1359delinsGC | ENSP00000382731.2:p.Tyr453Cys | |
| ENST00000399839.5:c.1358_1359delinsGC | ENSP00000382733.1:p.Tyr453Cys | |
| ENST00000449907.6:c.1232_1233delinsGC | ENSP00000406443.2:p.Tyr411Cys | |
| ENST00000610390.4:c.998_999delinsGC | ENSP00000483418.1:p.Tyr333Cys | |
| NM_001282225.1:c.1358_1359delinsGC | NP_001269154.1:p.Tyr453Cys | |
| NM_001282226.1:c.1358_1359delinsGC | NP_001269155.1:p.Tyr453Cys | |
| NM_001282227.1:c.1232_1233delinsGC | NP_001269156.1:p.Tyr411Cys | |
| NM_001282228.1:c.1232_1233delinsGC | NP_001269157.1:p.Tyr411Cys | |
| NM_001282229.1:c.998_999delinsGC | NP_001269158.1:p.Tyr333Cys | |
| NM_177405.2:c.635_636delinsGC | NP_803124.1:p.Tyr212Cys | |
| XM_006724080.2:c.674_675delinsGC | XP_006724143.1:p.Tyr225Cys | |
| XM_011546133.1:c.1358_1359delinsGC | XP_011544435.1:p.Tyr453Cys | |
| NM_001282225.2:c.1358_1359delinsGC MANE Select | NP_001269154.1:p.Tyr453Cys | |
| XM_006724080.3:c.674_675delinsGC | XP_006724143.1:p.Tyr225Cys | |
| XM_011546133.2:c.1358_1359delinsGC | XP_011544435.1:p.Tyr453Cys | |
| NM_001282226.2:c.1358_1359delinsGC | NP_001269155.1:p.Tyr453Cys | |
| NM_001282227.2:c.1232_1233delinsGC | NP_001269156.1:p.Tyr411Cys | |
| NM_001282228.2:c.1232_1233delinsGC | NP_001269157.1:p.Tyr411Cys | |
| NM_177405.3:c.635_636delinsGC | NP_803124.1:p.Tyr212Cys | |
| NM_001282229.2:c.998_999delinsGC | NP_001269158.1:p.Tyr333Cys |