HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199267_137199284del , CM000671.2:g.137199267_137199284del | GRCh38 |
NC_000009.11:g.140093719_140093736del , CM000671.1:g.140093719_140093736del | GRCh37 |
NC_000009.10:g.139213540_139213557del | NCBI36 |
NG_027801.1:g.6443_6460del | |
NG_027801.2:g.9925_9942del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1443_1460del MANE Select | ENSP00000387100.4:p.Leu482_Pro487del | |
ENST00000333046.8:c.837_854del | ENSP00000327617.4:p.Leu280_Pro285del | |
ENST00000409012.4:c.1443_1460del | ENSP00000387100.4:p.Leu482_Pro487del | |
ENST00000541945.1:n.90+4835_90+4852del | ||
NM_001128228.2:c.1443_1460del | NP_001121700.2:p.Leu482_Pro487del | |
NM_001128228.3:c.1443_1460del MANE Select | NP_001121700.2:p.Leu482_Pro487del |