gnomAD v2:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726699_91726724del , CM000671.2:g.91726699_91726724del | GRCh38 |
| NC_000009.11:g.94488981_94489006del , CM000671.1:g.94488981_94489006del | GRCh37 |
| NC_000009.10:g.93528802_93528827del | NCBI36 |
| NG_008089.1:g.228439_228464del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1203_1228del MANE Select | ENSP00000364860.3:p.Lys401AsnfsTer22 | |
| ENST00000375708.3:c.1203_1228del | ENSP00000364860.3:p.Lys401AsnfsTer22 | |
| ENST00000375715.5:c.783_808del | ENSP00000364867.1:p.Lys261AsnfsTer22 | |
| ENST00000550066.5:n.1671_1696del | ||
| NM_004560.3:c.1203_1228del | NP_004551.2:p.Lys401AsnfsTer22 | |
| XM_005252008.3:c.783_808del | XP_005252065.1:p.Lys261AsnfsTer22 | |
| XM_005252009.3:c.-1_25del | ||
| XM_006717121.2:c.783_808del | XP_006717184.1:p.Lys261AsnfsTer22 | |
| XM_011518721.1:c.783_808del | XP_011517023.1:p.Lys261AsnfsTer22 | |
| NM_001318204.1:c.1169_1194del | NP_001305133.1:p.Arg390ThrfsTer? | |
| XM_005252008.4:c.783_808del | XP_005252065.1:p.Lys261AsnfsTer22 | |
| XM_006717121.3:c.783_808del | XP_006717184.1:p.Lys261AsnfsTer22 | |
| XM_017014762.1:c.1194_1219del | XP_016870251.1:p.Lys398AsnfsTer22 | |
| XM_017014763.1:c.783_808del | XP_016870252.1:p.Lys261AsnfsTer22 | |
| XR_001746315.1:n.1412_1437del | ||
| NM_004560.4:c.1203_1228del MANE Select | NP_004551.2:p.Lys401AsnfsTer22 | |
| NM_001318204.2:c.1169_1194del | NP_001305133.1:p.Arg390ThrfsTer? |