MyVariant.info:
GRCh38
chr17:g.31334932_31334933del
GRCh38
chr17:g.31334931_31334932del
GRCh37
chr17:g.29661950_29661951del
GRCh37
chr17:g.29661949_29661950del
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31334932_31334933del , CM000679.2:g.31334932_31334933del | GRCh38 |
| NC_000017.10:g.29661950_29661951del , CM000679.1:g.29661950_29661951del | GRCh37 |
| NC_000017.9:g.26686076_26686077del | NCBI36 |
| NG_009018.1:g.244956_244957del , LRG_214:g.244956_244957del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.2095_2096del | ENSP00000492721.2:n.2095_2096del | |
| ENST00000696138.1:c.5889_5890del | ENSP00000512431.1:p.Arg1964SerfsTer6 | |
| ENST00000684826.1:c.471_472del | ENSP00000509994.1:p.Arg158SerfsTer6 | |
| ENST00000687027.1:c.63_64del | ENSP00000508715.1:p.Arg22SerfsTer6 | |
| ENST00000687863.1:n.2552_2553del | ||
| ENST00000691014.1:c.5937_5938del | ENSP00000510595.1:p.Arg1980SerfsTer6 | |
| ENST00000693617.1:c.471_472del | ENSP00000510031.1:p.Arg158SerfsTer6 | |
| ENST00000358273.9:c.5907_5908del MANE Select | ENSP00000351015.4:p.Arg1970SerfsTer6 | |
| ENST00000356175.7:c.5844_5845del | ENSP00000348498.3:p.Arg1949SerfsTer6 | |
| ENST00000358273.8:c.5907_5908del | ENSP00000351015.4:p.Arg1970SerfsTer6 | |
| ENST00000456735.6:c.4842_4843del | ENSP00000389907.2:p.Arg1615SerfsTer6 | |
| ENST00000479536.2:c.332_333del | ||
| ENST00000579081.5:c.6043_6044del | ENSP00000462408.1:n.6043_6044del | |
| ENST00000581113.6:n.1224_1225del | ||
| NM_000267.3:c.5844_5845del , LRG_214t1:c.5844_5845del | NP_000258.1:p.Arg1949SerfsTer6 | |
| NM_001042492.2:c.5907_5908del , LRG_214t2:c.5907_5908del | NP_001035957.1:p.Arg1970SerfsTer6 | |
| XM_005257983.1:c.5907_5908del | XP_005258040.1:p.Arg1970SerfsTer6 | |
| XM_005257984.1:c.5844_5845del | XP_005258041.1:p.Arg1949SerfsTer6 | |
| XM_006721922.1:c.5937_5938del | XP_006721985.1:p.Arg1980SerfsTer6 | |
| XM_006721923.2:c.5898_5899del | XP_006721986.1:p.Arg1967SerfsTer6 | |
| XM_006721924.1:c.5937_5938del | XP_006721987.1:p.Arg1980SerfsTer6 | |
| XM_006721925.1:c.5874_5875del | XP_006721988.1:p.Arg1959SerfsTer6 | |
| XM_006721926.2:c.5937_5938del | XP_006721989.1:p.Arg1980SerfsTer6 | |
| XM_006721927.1:c.5937_5938del | XP_006721990.1:p.Arg1980SerfsTer6 | |
| XM_011524852.1:c.5934_5935del | XP_011523154.1:p.Arg1979SerfsTer6 | |
| XM_011524853.1:c.5898_5899del | XP_011523155.1:p.Arg1967SerfsTer6 | |
| XM_011524854.1:c.5898_5899del | XP_011523156.1:p.Arg1967SerfsTer6 | |
| XM_011524855.1:c.5898_5899del | XP_011523157.1:p.Arg1967SerfsTer6 | |
| XM_011524856.1:c.5898_5899del | XP_011523158.1:p.Arg1967SerfsTer6 | |
| XM_011524857.1:c.5937_5938del | XP_011523159.1:p.Arg1980SerfsTer6 | |
| NM_001042492.3:c.5907_5908del MANE Select | NP_001035957.1:p.Arg1970SerfsTer6 |