Linked Data
dbSNP Id:
rs770651665
ExAC:
4:111542460 GCTT / G
gnomAD v2:
4-111542460-GCTT-G
gnomAD v3:
4-110621304-GCTT-G
gnomAD v4:
4-110621304-GCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110621311_110621313del , CM000666.2:g.110621311_110621313del | GRCh38 |
| NC_000004.11:g.111542467_111542469del , CM000666.1:g.111542467_111542469del | GRCh37 |
| NC_000004.10:g.111761916_111761918del | NCBI36 |
| NG_007120.1:g.21046_21048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613094.5:c.185-2619_185-2617del | ENSP00000484763.2:n.185-2619_185-2617del | |
| ENST00000614423.5:c.166_168del | ENSP00000481951.2:p.Lys56del | |
| ENST00000616641.5:n.234_236del | ||
| ENST00000644488.2:n.238_240del | ||
| ENST00000394595.8:c.247_249del | ENSP00000378095.4:p.Lys83del | |
| ENST00000644488.1:n.310_312del | ||
| ENST00000644743.1:c.268_270del MANE Select | ENSP00000495061.1:p.Lys90del | |
| ENST00000645131.1:n.199_201del | ||
| ENST00000306732.7:c.268_270del | ENSP00000304169.3:p.Lys90del | |
| ENST00000354925.6:c.247_249del | ENSP00000347004.2:p.Lys83del | |
| ENST00000355080.9:c.109_111del | ENSP00000347192.5:p.Lys37del | |
| ENST00000394595.7:c.185-2619_185-2617del | ENSP00000378095.3:n.185-2619_185-2617del | |
| ENST00000394598.6:c.247_249del | ENSP00000378097.2:p.Lys83del | |
| ENST00000511837.5:c.247_249del | ENSP00000421454.1:p.Lys83del | |
| ENST00000511990.1:c.109_111del | ENSP00000424142.1:p.Lys37del | |
| ENST00000557119.2:c.268_270del | ENSP00000475617.1:p.Lys90del | |
| ENST00000613094.4:c.247_249del | ENSP00000484763.1:p.Lys83del | |
| ENST00000614423.4:c.247_249del | ENSP00000481951.1:p.Lys83del | |
| ENST00000616641.4:c.109_111del | ENSP00000484909.1:p.Lys37del | |
| NM_000325.5:c.268_270del | NP_000316.2:p.Lys90del | |
| NM_001204397.1:c.247_249del | NP_001191326.1:p.Lys83del | |
| NM_001204398.1:c.247_249del | NP_001191327.1:p.Lys83del | |
| NM_001204399.1:c.109_111del | NP_001191328.1:p.Lys37del | |
| NM_153426.2:c.247_249del | NP_700475.1:p.Lys83del | |
| NM_153427.2:c.109_111del | NP_700476.1:p.Lys37del | |
| XM_006714235.2:c.247_249del | XP_006714298.1:p.Lys83del | |
| XM_011532027.1:c.109_111del | XP_011530329.1:p.Lys37del | |
| XM_024454090.1:c.-87_-85del | XP_024309858.1:n.-87_-85del | |
| NM_000325.6:c.268_270del MANE Select | NP_000316.2:p.Lys90del | |
| NM_001204397.2:c.247_249del | NP_001191326.1:p.Lys83del | |
| NM_153426.3:c.247_249del | NP_700475.1:p.Lys83del | |
| NM_153427.3:c.109_111del | NP_700476.1:p.Lys37del |