Linked Data
dbSNP Id:
rs761635447
ExAC:
1:197072099 CTTCAAA / C
gnomAD v2:
1-197072099-CTTCAAA-C
gnomAD v4:
1-197102969-CTTCAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197102972_197102977del , CM000663.2:g.197102972_197102977del | GRCh38 |
| NC_000001.10:g.197072102_197072107del , CM000663.1:g.197072102_197072107del | GRCh37 |
| NC_000001.9:g.195338725_195338730del | NCBI36 |
| NG_015867.1:g.48720_48725del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2108-6811_2108-6806del | ||
| ENST00000367409.9:c.6276_6281del MANE Select | ENSP00000356379.4:p.Asn2092_Leu2093del | |
| ENST00000680265.1:c.6276_6281del | ENSP00000505384.1:p.Asn2092_Leu2093del | |
| ENST00000680710.1:c.6276_6281del | ENSP00000506676.1:p.Asn2092_Leu2093del | |
| ENST00000294732.11:c.4066-6811_4066-6806del | ENSP00000294732.7:n.4066-6811_4066-6806de... | |
| ENST00000367408.5:c.1816-6811_1816-6806del | ENSP00000356378.1:n.1816-6811_1816-6806de... | |
| ENST00000367409.8:c.6276_6281del | ENSP00000356379.4:p.Asn2092_Leu2093del | |
| ENST00000612785.1:c.562-328_562-323del | ENSP00000479244.1:n.562-328_562-323del | |
| NM_001206846.1:c.4066-6811_4066-6806del | NP_001193775.1:n.4066-6811_4066-6806del | |
| NM_018136.4:c.6276_6281del | NP_060606.3:p.Asn2092_Leu2093del | |
| NM_018136.5:c.6276_6281del MANE Select | NP_060606.3:p.Asn2092_Leu2093del | |
| NM_001206846.2:c.4066-6811_4066-6806del | NP_001193775.1:n.4066-6811_4066-6806del |