Linked Data
dbSNP Id:
rs773486161
ExAC:
11:121016416 CAT / C
gnomAD v2:
11-121016416-CAT-C
gnomAD v4:
11-121145707-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121145708_121145709del , CM000673.2:g.121145708_121145709del | GRCh38 |
| NC_000011.9:g.121016417_121016418del , CM000673.1:g.121016417_121016418del | GRCh37 |
| NC_000011.8:g.120521627_120521628del | NCBI36 |
| NG_011633.1:g.48043_48044del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392793.6:c.3697_3698del (TECTA) MANE Select | ENSP00000376543.1:p.Met1233AlafsTer16 | |
| ENST00000642222.1:c.3697_3698del (TECTA) | ENSP00000493855.1:p.Met1233AlafsTer16 | |
| ENST00000645008.1:c.1004_1005del (TECTA) | ||
| ENST00000264037.2:c.3697_3698del (TECTA) | ENSP00000264037.2:p.Met1233AlafsTer16 | |
| ENST00000392793.5:c.3697_3698del (TECTA) | ENSP00000376543.1:p.Met1233AlafsTer16 | |
| ENST00000478058.1:n.262_263del (TECTA) | ||
| NM_005422.2:c.3697_3698del (TECTA) | NP_005413.2:p.Met1233AlafsTer16 | |
| NM_001378761.1:c.4654_4655del (TBCEL-TECTA) | NP_001365690.1:p.Met1552AlafsTer16 | |
| NM_005422.4:c.3697_3698del (TECTA) MANE Select | NP_005413.2:p.Met1233AlafsTer16 |