HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199437_137199439dup , CM000671.2:g.137199437_137199439dup | GRCh38 |
NC_000009.11:g.140093889_140093891dup , CM000671.1:g.140093889_140093891dup | GRCh37 |
NC_000009.10:g.139213710_139213712dup | NCBI36 |
NG_027801.1:g.6276_6278dup | |
NG_027801.2:g.9758_9760dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1276_1278dup MANE Select | ENSP00000387100.4:p.Ala426_Ser427insAla | |
ENST00000333046.8:c.670_672dup | ENSP00000327617.4:p.Ala224_Ser225insAla | |
ENST00000409012.4:c.1276_1278dup | ENSP00000387100.4:p.Ala426_Ser427insAla | |
ENST00000541945.1:n.90+4668_90+4670dup | ||
NM_001128228.2:c.1276_1278dup | NP_001121700.2:p.Ala426_Ser427insAla | |
NM_001128228.3:c.1276_1278dup MANE Select | NP_001121700.2:p.Ala426_Ser427insAla |