Linked Data
dbSNP Id:
rs1728980838
gnomAD v3:
4-110620879-TGCAGGGGATTGCCCATGCAGCCCA-T
gnomAD v4:
4-110620879-TGCAGGGGATTGCCCATGCAGCCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110620882_110620905del , CM000666.2:g.110620882_110620905del | GRCh38 |
| NC_000004.11:g.111542038_111542061del , CM000666.1:g.111542038_111542061del | GRCh37 |
| NC_000004.10:g.111761487_111761510del | NCBI36 |
| NG_007120.1:g.21450_21473del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613094.5:c.185-2215_185-2192del | ENSP00000484763.2:n.185-2215_185-2192del | |
| ENST00000614423.5:c.309+261_309+284del | ENSP00000481951.2:n.309+261_309+284del | |
| ENST00000616641.5:n.377+261_377+284del | ||
| ENST00000644488.2:n.381+261_381+284del | ||
| ENST00000394595.8:c.390+261_390+284del | ENSP00000378095.4:n.390+261_390+284del | |
| ENST00000644488.1:n.453+261_453+284del | ||
| ENST00000644743.1:c.411+261_411+284del MANE Select | ENSP00000495061.1:n.411+261_411+284del | |
| ENST00000645131.1:n.342+261_342+284del | ||
| ENST00000306732.7:c.411+261_411+284del | ENSP00000304169.3:n.411+261_411+284del | |
| ENST00000354925.6:c.390+261_390+284del | ENSP00000347004.2:n.390+261_390+284del | |
| ENST00000355080.9:c.252+261_252+284del | ENSP00000347192.5:n.252+261_252+284del | |
| ENST00000394595.7:c.185-2215_185-2192del | ENSP00000378095.3:n.185-2215_185-2192del | |
| ENST00000394598.6:c.390+261_390+284del | ENSP00000378097.2:n.390+261_390+284del | |
| ENST00000511837.5:c.390+261_390+284del | ENSP00000421454.1:n.390+261_390+284del | |
| ENST00000511990.1:c.252+261_252+284del | ENSP00000424142.1:n.252+261_252+284del | |
| ENST00000557119.2:c.672_695del | ENSP00000475617.1:p.Gly225_Ala232del | |
| ENST00000613094.4:c.390+261_390+284del | ENSP00000484763.1:n.390+261_390+284del | |
| ENST00000614423.4:c.390+261_390+284del | ENSP00000481951.1:n.390+261_390+284del | |
| ENST00000616641.4:c.252+261_252+284del | ENSP00000484909.1:n.252+261_252+284del | |
| NM_000325.5:c.411+261_411+284del | NP_000316.2:n.411+261_411+284del | |
| NM_001204397.1:c.390+261_390+284del | NP_001191326.1:n.390+261_390+284del | |
| NM_001204398.1:c.390+261_390+284del | NP_001191327.1:n.390+261_390+284del | |
| NM_001204399.1:c.252+261_252+284del | NP_001191328.1:n.252+261_252+284del | |
| NM_153426.2:c.390+261_390+284del | NP_700475.1:n.390+261_390+284del | |
| NM_153427.2:c.252+261_252+284del | NP_700476.1:n.252+261_252+284del | |
| XM_006714235.2:c.390+261_390+284del | XP_006714298.1:n.390+261_390+284del | |
| XM_011532027.1:c.252+261_252+284del | XP_011530329.1:n.252+261_252+284del | |
| XM_024454090.1:c.57+261_57+284del | XP_024309858.1:n.57+261_57+284del | |
| NM_000325.6:c.411+261_411+284del MANE Select | NP_000316.2:n.411+261_411+284del | |
| NM_001204397.2:c.390+261_390+284del | NP_001191326.1:n.390+261_390+284del | |
| NM_153426.3:c.390+261_390+284del | NP_700475.1:n.390+261_390+284del | |
| NM_153427.3:c.252+261_252+284del | NP_700476.1:n.252+261_252+284del |