Linked Data
dbSNP Id:
rs1347522771
gnomAD v3:
2-47073802-TGGGCGAGGTGCTGCAGGCCCA-T
gnomAD v4:
2-47073802-TGGGCGAGGTGCTGCAGGCCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073807_47073827del , CM000664.2:g.47073807_47073827del | GRCh38 |
| NC_000002.11:g.47300946_47300966del , CM000664.1:g.47300946_47300966del | GRCh37 |
| NC_000002.10:g.47154450_47154470del | NCBI36 |
| NG_034143.1:g.162679_162699del | |
| NG_034143.2:g.162679_162699del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4294_4314del (TTC7A) | ||
| ENST00000698503.1:n.2467_2487del (TTC7A) | ||
| ENST00000319190.11:c.2461_2481del (TTC7A) MANE Select | ENSP00000316699.5:p.Glu821_Gly827del | |
| ENST00000651101.1:n.1059_1079del (TTC7A) | ||
| ENST00000651415.1:n.1252_1272del (TTC7A) | ||
| ENST00000652236.1:n.1162_1182del (TTC7A) | ||
| ENST00000652568.1:n.1134_1154del (TTC7A) | ||
| ENST00000319190.9:c.2461_2481del (TTC7A) | ENSP00000316699.5:p.Glu821_Gly827del | |
| ENST00000394850.6:c.2533_2553del (TTC7A) | ENSP00000378320.2:p.Glu845_Gly851del | |
| ENST00000409245.5:c.2359_2379del (TTC7A) | ENSP00000386307.1:p.Glu787_Gly793del | |
| ENST00000409825.5:c.2409_2429del (TTC7A) | ||
| ENST00000422269.1:c.787-7686_787-7666del | ||
| ENST00000441914.5:c.2302_2322del (TTC7A) | ||
| ENST00000464527.2:n.399-7686_399-7666del (STPG4) | ||
| ENST00000482548.1:n.402-5267_402-5247del (STPG4) | ||
| ENST00000484061.5:n.1568_1588del (TTC7A) | ||
| ENST00000491786.5:n.1865_1885del (TTC7A) | ||
| ENST00000496939.1:n.416-26904_416-26884del (STPG4) | ||
| NM_001288951.1:c.2533_2553del (TTC7A) | NP_001275880.1:p.Glu845_Gly851del | |
| NM_001288953.1:c.2359_2379del (TTC7A) | NP_001275882.1:p.Glu787_Gly793del | |
| NM_001288955.1:c.1399_1419del (TTC7A) | NP_001275884.1:p.Glu467_Gly473del | |
| NM_020458.3:c.2461_2481del (TTC7A) | NP_065191.2:p.Glu821_Gly827del | |
| XM_005264439.2:c.2104_2124del (TTC7A) | XP_005264496.1:p.Glu702_Gly708del | |
| XM_011532998.1:c.2104_2124del (TTC7A) | XP_011531300.1:p.Glu702_Gly708del | |
| XM_011533000.1:c.1681_1701del (TTC7A) | XP_011531302.1:p.Glu561_Gly567del | |
| XM_011533001.1:c.1414_1434del (TTC7A) | XP_011531303.1:p.Glu472_Gly478del | |
| XM_005264439.4:c.2104_2124del (TTC7A) | XP_005264496.1:p.Glu702_Gly708del | |
| XM_011532998.3:c.2104_2124del (TTC7A) | XP_011531300.1:p.Glu702_Gly708del | |
| XM_011533000.3:c.1681_1701del (TTC7A) | XP_011531302.1:p.Glu561_Gly567del | |
| XM_011533001.3:c.1414_1434del (TTC7A) | XP_011531303.1:p.Glu472_Gly478del | |
| XM_017004524.1:c.2344_2364del (TTC7A) | XP_016860013.1:p.Glu782_Gly788del | |
| XM_017004525.1:c.2293_2313del (TTC7A) | XP_016860014.1:p.Glu765_Gly771del | |
| XM_017004526.1:c.2212_2232del (TTC7A) | XP_016860015.1:p.Glu738_Gly744del | |
| XM_024453013.1:c.1426_1446del (TTC7A) | XP_024308781.1:p.Glu476_Gly482del | |
| NM_020458.4:c.2461_2481del (TTC7A) MANE Select | NP_065191.2:p.Glu821_Gly827del | |
| NM_001288951.2:c.2533_2553del (TTC7A) | NP_001275880.1:p.Glu845_Gly851del | |
| NM_001288953.2:c.2359_2379del (TTC7A) | NP_001275882.1:p.Glu787_Gly793del | |
| NM_001288955.2:c.1399_1419del (TTC7A) | NP_001275884.1:p.Glu467_Gly473del |