ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36976384_36976386del , CM000667.2:g.36976384_36976386del | GRCh38 |
| NC_000005.9:g.36976486_36976488del , CM000667.1:g.36976486_36976488del | GRCh37 |
| NC_000005.8:g.37012243_37012245del | NCBI36 |
| NG_006987.1:g.104502_104504del | |
| NG_006987.2:g.104502_104504del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.1477_1479del MANE Select | ENSP00000282516.8:p.Lys493del | |
| ENST00000652901.1:c.1477_1479del | ENSP00000499536.1:p.Lys493del | |
| ENST00000282516.12:c.1477_1479del | ENSP00000282516.8:p.Lys493del | |
| ENST00000448238.2:c.1477_1479del | ENSP00000406266.2:p.Lys493del | |
| ENST00000504430.5:n.1097_1099del | ||
| ENST00000621733.1:c.1-88194_1-88192del | ENSP00000480694.1:n.1-88194_1-88192del | |
| NM_015384.4:c.1477_1479del | NP_056199.2:p.Lys493del | |
| NM_133433.3:c.1477_1479del | NP_597677.2:p.Lys493del | |
| XM_005248280.2:c.1477_1479del | XP_005248337.1:p.Lys493del | |
| XM_005248282.3:c.733_735del | XP_005248339.2:p.Lys245del | |
| XM_006714467.2:c.1477_1479del | XP_006714530.1:p.Lys493del | |
| XM_006714468.1:c.1477_1479del | XP_006714531.1:p.Lys493del | |
| XM_011514014.1:c.1477_1479del | XP_011512316.1:p.Lys493del | |
| XM_011514015.1:c.1477_1479del | XP_011512317.1:p.Lys493del | |
| XM_005248280.3:c.1477_1479del | XP_005248337.1:p.Lys493del | |
| XM_005248282.5:c.817_819del | XP_005248339.3:p.Lys273del | |
| XM_006714468.2:c.1477_1479del | XP_006714531.1:p.Lys493del | |
| XM_017009329.1:c.1477_1479del | XP_016864818.1:p.Lys493del | |
| XM_017009331.1:c.1477_1479del | XP_016864820.1:p.Lys493del | |
| NM_133433.4:c.1477_1479del MANE Select | NP_597677.2:p.Lys493del | |
| NM_015384.5:c.1477_1479del | NP_056199.2:p.Lys493del |