Linked Data
dbSNP Id:
rs1561699606
gnomAD v2:
5-180040052-GTC-G
gnomAD v3:
5-180613052-GTC-G
gnomAD v4:
5-180613052-GTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180613057_180613058del , CM000667.2:g.180613057_180613058del | GRCh38 |
| NC_000005.9:g.180040057_180040058del , CM000667.1:g.180040057_180040058del | GRCh37 |
| NC_000005.8:g.179972663_179972664del | NCBI36 |
| NG_011536.1:g.41571_41572del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3388_3389del MANE Select | ENSP00000261937.6:p.Asp1130ArgfsTer? | |
| ENST00000261937.10:c.3388_3389del | ENSP00000261937.6:p.Asp1130ArgfsTer? | |
| ENST00000393347.7:c.3388_3389del | ENSP00000377016.3:p.Asp1130ArgfsTer? | |
| ENST00000502649.5:c.3388_3389del | ENSP00000426057.1:p.Asp1130ArgfsTer? | |
| ENST00000507059.5:n.3738_3739del | ||
| ENST00000510000.1:n.340_341del | ||
| ENST00000619105.4:c.*2331_*2332del | ENSP00000481134.1:n.*2331_*2332del | |
| NM_002020.4:c.3388_3389del | NP_002011.2:p.Asp1130ArgfsTer? | |
| NM_182925.4:c.3388_3389del | NP_891555.2:p.Asp1130ArgfsTer? | |
| XM_011534477.1:c.3637_3638del | XP_011532779.1:p.Asp1213ArgfsTer? | |
| XM_011534478.1:c.3619_3620del | XP_011532780.1:p.Asp1207ArgfsTer? | |
| XM_011534479.1:c.3637_3638del | XP_011532781.1:p.Asp1213ArgfsTer? | |
| XM_011534480.1:c.3637_3638del | XP_011532782.1:p.Asp1213ArgfsTer? | |
| XM_011534481.1:c.3637_3638del | XP_011532783.1:p.Asp1213ArgfsTer? | |
| XM_011534482.1:c.3406_3407del | XP_011532784.1:p.Asp1136ArgfsTer? | |
| XM_011534483.1:c.3328_3329del | XP_011532785.1:p.Asp1110ArgfsTer? | |
| XM_011534484.1:c.2929_2930del | XP_011532786.1:p.Asp977ArgfsTer? | |
| XR_941095.1:n.3649_3650del | ||
| NM_001354989.1:c.3388_3389del | NP_001341918.1:p.Asp1130ArgfsTer? | |
| XM_011534478.3:c.3619_3620del | XP_011532780.1:p.Asp1207ArgfsTer? | |
| XM_011534484.2:c.2929_2930del | XP_011532786.1:p.Asp977ArgfsTer? | |
| XM_017009263.1:c.3619_3620del | XP_016864752.1:p.Asp1207ArgfsTer? | |
| XM_017009264.2:c.3619_3620del | XP_016864753.1:p.Asp1207ArgfsTer? | |
| XM_017009265.1:c.3619_3620del | XP_016864754.1:p.Asp1207ArgfsTer? | |
| XM_017009266.1:c.3619_3620del | XP_016864755.1:p.Asp1207ArgfsTer? | |
| XM_017009267.2:c.3619_3620del | XP_016864756.1:p.Asp1207ArgfsTer? | |
| XM_017009268.1:c.3310_3311del | XP_016864757.1:p.Asp1104ArgfsTer? | |
| XR_001742050.2:n.3853_3854del | ||
| NM_182925.5:c.3388_3389del MANE Select | NP_891555.2:p.Asp1130ArgfsTer? | |
| NM_001354989.2:c.3388_3389del | NP_001341918.1:p.Asp1130ArgfsTer? | |
| NM_002020.5:c.3388_3389del | NP_002011.2:p.Asp1130ArgfsTer? |