Linked Data
dbSNP Id:
rs1388968947
gnomAD v3:
17-75516764-CGCCCGCTCGCGGTCGCAGAAGCT-C
gnomAD v4:
17-75516764-CGCCCGCTCGCGGTCGCAGAAGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516769_75516791del , CM000679.2:g.75516769_75516791del | GRCh38 |
| NC_000017.10:g.73512850_73512872del , CM000679.1:g.73512850_73512872del | GRCh37 |
| NC_000017.9:g.71024445_71024467del | NCBI36 |
| NG_013041.1:g.5242_5264del | |
| NG_033152.1:g.3797_3819del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.80_102del MANE Select | ENSP00000327487.6:p.Arg27ProfsTer? | |
| ENST00000434205.8:c.-82-240_-82-218del | ENSP00000406559.4:n.-82-240_-82-218del | |
| ENST00000545228.3:c.80_102del | ENSP00000438169.3:p.Arg27ProfsTer? | |
| ENST00000579449.2:n.20+153_20+175del | ||
| ENST00000580013.6:n.89_111del | ||
| ENST00000583818.2:c.80_102del | ENSP00000461928.2:p.Arg27ProfsTer? | |
| ENST00000679370.1:n.467_489del | ||
| ENST00000679429.1:c.80_102del | ENSP00000505403.1:p.Arg27ProfsTer? | |
| ENST00000679782.1:c.80_102del | ENSP00000505995.1:p.Arg27ProfsTer? | |
| ENST00000679928.1:c.80_102del | ENSP00000506071.1:p.Arg27ProfsTer? | |
| ENST00000680528.1:n.105_127del | ||
| ENST00000680999.1:c.80_102del | ENSP00000504984.1:p.Arg27ProfsTer? | |
| ENST00000681282.1:c.80_102del | ENSP00000506339.1:p.Arg27ProfsTer? | |
| ENST00000333213.10:c.80_102del | ENSP00000327487.6:p.Arg27ProfsTer? | |
| ENST00000434205.7:c.-82-240_-82-218del | ENSP00000406559.3:n.-82-240_-82-218del | |
| ENST00000580013.5:n.105_127del | ||
| ENST00000583173.5:c.56+153_56+175del | ENSP00000463619.1:n.56+153_56+175del | |
| ENST00000583454.1:n.115_137del | ||
| NM_207346.2:c.80_102del | NP_997229.2:p.Arg27ProfsTer? | |
| XM_005257229.2:c.80_102del | XP_005257286.1:p.Arg27ProfsTer? | |
| XM_006721821.2:c.-224_-202del | XP_006721884.1:n.-224_-202del | |
| XM_011524616.1:c.80_102del | XP_011522918.1:p.Arg27ProfsTer? | |
| XM_011524617.1:c.80_102del | XP_011522919.1:p.Arg27ProfsTer? | |
| XM_011524618.1:c.80_102del | XP_011522920.1:p.Arg27ProfsTer? | |
| XR_243646.2:n.110_132del | ||
| XM_005257229.4:c.80_102del | XP_005257286.1:p.Arg27ProfsTer? | |
| XR_243646.4:n.116_138del | ||
| NM_207346.3:c.80_102del MANE Select | NP_997229.2:p.Arg27ProfsTer? |