HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116834_19116840del , CM000669.2:g.19116834_19116840del | GRCh38 |
NC_000007.13:g.19156457_19156463del , CM000669.1:g.19156457_19156463del | GRCh37 |
NC_000007.12:g.19122982_19122988del | NCBI36 |
NG_008114.1:g.5833_5839del | |
NG_008114.2:g.5833_5839del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242261.6:c.482_488del MANE Select | ENSP00000242261.5:p.Gln161ProfsTer? | |
ENST00000242261.5:c.482_488del | ENSP00000242261.5:p.Gln161ProfsTer? | |
ENST00000354571.5:c.279_285del | ||
ENST00000443687.5:c.85_91del | ||
NM_000474.3:c.482_488del | NP_000465.1:p.Gln161ProfsTer? | |
XM_011515496.1:c.482_488del | XP_011513798.1:p.Gln161ProfsTer? | |
NR_149001.1:n.833_839del | ||
NM_000474.4:c.482_488del MANE Select | NP_000465.1:p.Gln161ProfsTer? | |
NR_149001.2:n.797_803del |