Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957029_154957036delinsGAGAGAT , CM000685.2:g.154957029_154957036delinsGAGAGAT | GRCh38 |
| NC_000023.10:g.154185304_154185311delinsGAGAGAT , CM000685.1:g.154185304_154185311delinsGAGAGAT | GRCh37 |
| NC_000023.9:g.153838498_153838505delinsGAGAGAT | NCBI36 |
| NG_011403.1:g.70688_70695delinsATCTCTC | |
| NG_011403.2:g.70688_70695delinsATCTCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1673_1680delinsATCTCTC MANE Select | ENSP00000353393.4:p.Met558AsnfsTer5 | |
| ENST00000647125.1:c.*1549_*1556delinsATCTCTC | ENSP00000496062.1:n.*1549_*1556delinsATCTCTC | |
| ENST00000360256.8:c.1673_1680delinsATCTCTC | ENSP00000353393.4:p.Met558AsnfsTer5 | |
| NM_000132.3:c.1673_1680delinsATCTCTC | NP_000123.1:p.Met558AsnfsTer5 | |
| XM_011531126.1:c.1568_1575delinsATCTCTC | XP_011529428.1:p.Met523AsnfsTer5 | |
| NM_000132.4:c.1673_1680delinsATCTCTC MANE Select | NP_000123.1:p.Met558AsnfsTer5 |