HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116942_19116944dup , CM000669.2:g.19116942_19116944dup | GRCh38 |
NC_000007.13:g.19156565_19156567dup , CM000669.1:g.19156565_19156567dup | GRCh37 |
NC_000007.12:g.19123090_19123092dup | NCBI36 |
NG_008114.1:g.5730_5732dup | |
NG_008114.2:g.5730_5732dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242261.6:c.379_381dup MANE Select | ENSP00000242261.5:p.Ala127_Phe128insAla | |
ENST00000242261.5:c.379_381dup | ENSP00000242261.5:p.Ala127_Phe128insAla | |
ENST00000354571.5:c.176_178dup | ||
NM_000474.3:c.379_381dup | NP_000465.1:p.Ala127_Phe128insAla | |
XM_011515496.1:c.379_381dup | XP_011513798.1:p.Ala127_Phe128insAla | |
NR_149001.1:n.730_732dup | ||
NM_000474.4:c.379_381dup MANE Select | NP_000465.1:p.Ala127_Phe128insAla | |
NR_149001.2:n.694_696dup |