HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135789641_135789652dup , CM000664.2:g.135789641_135789652dup | GRCh38 |
NC_000002.11:g.136547211_136547222dup , CM000664.1:g.136547211_136547222dup | GRCh37 |
NC_000002.10:g.136263681_136263692dup | NCBI36 |
NG_008104.2:g.70520_70531dup , LRG_338:g.70520_70531dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264162.7:c.5484_5495dup MANE Select | ENSP00000264162.2:p.Ala1832_Ser1833insLys... | |
ENST00000264162.6:c.5484_5495dup | ENSP00000264162.2:p.Ala1832_Ser1833insLys... | |
NM_002299.2:c.5484_5495dup , LRG_338t1:c.5484_5495dup | NP_002290.2:p.Ala1832_Ser1833insLysPheTyr... | |
NM_002299.3:c.5484_5495dup | NP_002290.2:p.Ala1832_Ser1833insLysPheTyr... | |
NM_002299.4:c.5484_5495dup MANE Select | NP_002290.2:p.Ala1832_Ser1833insLysPheTyr... |