Linked Data
dbSNP Id:
rs60101975
gnomAD v2:
1-65298774-G-GTGTTGTT
gnomAD v3:
1-64833091-G-GTGTTGTT
gnomAD v4:
1-64833091-G-GTGTTGTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833095_64833096insGTTTGTT , CM000663.2:g.64833095_64833096insGTTTGTT | GRCh38 |
| NC_000001.10:g.65298778_65298779insGTTTGTT , CM000663.1:g.65298778_65298779insGTTTGTT | GRCh37 |
| NC_000001.9:g.65071366_65071367insGTTTGTT | NCBI36 |
| NG_023402.1:g.138413_138414insAACAACA | |
| NG_023402.2:g.239655_239656insAACAACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2110_*2111insGTTTGTT MANE Select | ENSP00000294428.3:n.*2110_*2111insGTTTGTT... | |
| ENST00000294428.7:c.*2110_*2111insGTTTGTT | ENSP00000294428.3:n.*2110_*2111insGTTTGTT... | |
| ENST00000371072.8:c.*2110_*2111insGTTTGTT | ENSP00000360112.4:n.*2110_*2111insGTTTGTT... | |
| NM_018211.3:c.*2110_*2111insGTTTGTT | NP_060681.2:n.*2110_*2111insGTTTGTT | |
| XM_006710738.2:c.*2110_*2111insGTTTGTT | XP_006710801.2:n.*2110_*2111insGTTTGTT | |
| NM_001366165.1:c.*2110_*2111insGTTTGTT | NP_001353094.1:n.*2110_*2111insGTTTGTT | |
| XR_946693.3:n.4529_4530insGTTTGTT | ||
| NM_018211.4:c.*2110_*2111insGTTTGTT | NP_060681.2:n.*2110_*2111insGTTTGTT | |
| NM_001366165.2:c.*2110_*2111insGTTTGTT MANE Select | NP_001353094.1:n.*2110_*2111insGTTTGTT |