HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74422009_74422010dup , CM000685.2:g.74422009_74422010dup | GRCh38 |
NC_000023.10:g.73641844_73641845dup , CM000685.1:g.73641844_73641845dup | GRCh37 |
NC_000023.9:g.73558569_73558570dup | NCBI36 |
NG_011641.1:g.5760_5761dup | |
NG_011641.2:g.5760_5761dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.372_373dup MANE Select | ENSP00000465734.1:p.Tyr125SerfsTer6 | |
ENST00000636771.1:c.118_119dup | ||
ENST00000587091.5:c.372_373dup | ENSP00000465734.1:p.Tyr125SerfsTer6 | |
NM_006517.4:c.372_373dup | NP_006508.2:p.Tyr125SerfsTer6 | |
XM_005262294.1:c.372_373dup | XP_005262351.1:p.Tyr125SerfsTer6 | |
XM_011531015.1:c.372_373dup | XP_011529317.1:p.Tyr125SerfsTer6 | |
NM_006517.5:c.372_373dup MANE Select | NP_006508.2:p.Tyr125SerfsTer6 |