gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414022del , CM000670.2:g.144414022del | GRCh38 |
| NC_000008.10:g.145639406del , CM000670.1:g.145639406del | GRCh37 |
| NC_000008.9:g.145610214del | NCBI36 |
| NG_012234.2:g.7870del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1224del MANE Select | ENSP00000301305.4:p.Leu410SerfsTer? | |
| ENST00000276833.9:c.1149del | ENSP00000276833.5:p.Leu385SerfsTer? | |
| ENST00000301305.7:c.1224del | ENSP00000301305.3:p.Leu410SerfsTer? | |
| ENST00000531789.1:n.61del | ||
| NM_017767.2:c.1149del | NP_060237.2:p.Leu385SerfsTer? | |
| NM_130849.3:c.1224del | NP_570901.2:p.Leu410SerfsTer? | |
| XM_006716599.1:c.1224del | XP_006716662.1:p.Leu410SerfsTer? | |
| XM_011517153.1:c.942del | XP_011515455.1:p.Leu316SerfsTer? | |
| XM_024447188.1:c.942del | XP_024302956.1:p.Leu316SerfsTer? | |
| XM_024447189.1:c.942del | XP_024302957.1:p.Leu316SerfsTer? | |
| NM_001374839.1:c.942del | NP_001361768.1:p.Leu316SerfsTer? | |
| NM_017767.3:c.1149del | NP_060237.3:p.Leu385SerfsTer? | |
| NM_130849.4:c.1224del MANE Select | NP_570901.3:p.Leu410SerfsTer? |