Linked Data
dbSNP Id:
rs1664344105
gnomAD v3:
1-197421805-GTCTGGCTCA-G
gnomAD v4:
1-197421805-GTCTGGCTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421808_197421816del , CM000663.2:g.197421808_197421816del | GRCh38 |
| NC_000001.10:g.197390938_197390946del , CM000663.1:g.197390938_197390946del | GRCh37 |
| NC_000001.9:g.195657561_195657569del | NCBI36 |
| NG_008483.1:g.158531_158539del | |
| NG_008483.2:g.225347_225355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1980_1988del MANE Select | ENSP00000356370.3:p.Gly661_Ser663del | |
| ENST00000638467.1:c.1980_1988del | ENSP00000491102.1:p.Gly661_Ser663del | |
| ENST00000681519.1:c.861_869del | ENSP00000505267.1:p.Gly288_Ser290del | |
| ENST00000367397.1:c.123_131del | ENSP00000356367.1:p.Gly42_Ser44del | |
| ENST00000367399.6:c.1644_1652del | ENSP00000356369.2:p.Gly549_Ser551del | |
| ENST00000367400.7:c.1980_1988del | ENSP00000356370.3:p.Gly661_Ser663del | |
| ENST00000484075.5:c.1980_1988del | ENSP00000433932.1:p.Gly661_Ser663del | |
| ENST00000535699.5:c.1773_1781del | ENSP00000438786.1:p.Gly592_Ser594del | |
| ENST00000538660.5:c.1980_1988del | ENSP00000438091.1:p.Gly661_Ser663del | |
| NM_001193640.1:c.1644_1652del | NP_001180569.1:p.Gly549_Ser551del | |
| NM_001257965.1:c.1773_1781del | NP_001244894.1:p.Gly592_Ser594del | |
| NM_001257966.1:c.1980_1988del | NP_001244895.1:p.Gly661_Ser663del | |
| NM_201253.2:c.1980_1988del | NP_957705.1:p.Gly661_Ser663del | |
| NR_047563.1:n.1981_1989del | ||
| NR_047564.1:n.2189_2197del | ||
| XM_011509365.1:c.1980_1988del | XP_011507667.1:p.Gly661_Ser663del | |
| XM_011509366.1:c.1980_1988del | XP_011507668.1:p.Gly661_Ser663del | |
| XM_011509367.1:c.1980_1988del | XP_011507669.1:p.Gly661_Ser663del | |
| XM_011509368.1:c.1398_1406del | XP_011507670.1:p.Gly467_Ser469del | |
| XM_011509369.1:c.423_431del | XP_011507671.1:p.Gly142_Ser144del | |
| XM_011509365.2:c.1980_1988del | XP_011507667.1:p.Gly661_Ser663del | |
| XM_011509369.2:c.423_431del | XP_011507671.1:p.Gly142_Ser144del | |
| XM_017000851.1:c.1137_1145del | XP_016856340.1:p.Gly380_Ser382del | |
| XM_017000852.1:c.1980_1988del | XP_016856341.1:p.Gly661_Ser663del | |
| NM_201253.3:c.1980_1988del MANE Select | NP_957705.1:p.Gly661_Ser663del | |
| NM_001193640.2:c.1644_1652del | NP_001180569.1:p.Gly549_Ser551del | |
| NM_001257965.2:c.1773_1781del | NP_001244894.1:p.Gly592_Ser594del | |
| NR_047563.2:n.1933_1941del | ||
| NR_047564.2:n.2141_2149del | ||
| NM_001257966.2:c.1980_1988del | NP_001244895.1:p.Gly661_Ser663del |