Linked Data
dbSNP Id:
rs60101975
gnomAD v3:
1-64833091-G-GTGTTGTTTGTT
gnomAD v4:
1-64833091-G-GTGTTGTTTGTT
MyVariant Identifiers:
chr1:g.65298774_65298775insTGTTGTTTGTT (hg19)
chr1:g.64833091_64833092insTGTTGTTTGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833095_64833096insGTTTGTTTGTT , CM000663.2:g.64833095_64833096insGTTTGTTTGTT | GRCh38 |
| NC_000001.10:g.65298778_65298779insGTTTGTTTGTT , CM000663.1:g.65298778_65298779insGTTTGTTTGTT | GRCh37 |
| NC_000001.9:g.65071366_65071367insGTTTGTTTGTT | NCBI36 |
| NG_023402.1:g.138413_138414insAACAAACAACA | |
| NG_023402.2:g.239655_239656insAACAAACAACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2110_*2111insGTTTGTTTGTT MANE Select | ENSP00000294428.3:n.*2110_*2111insGTTTGTT... | |
| ENST00000294428.7:c.*2110_*2111insGTTTGTTTGTT | ENSP00000294428.3:n.*2110_*2111insGTTTGTT... | |
| ENST00000371072.8:c.*2110_*2111insGTTTGTTTGTT | ENSP00000360112.4:n.*2110_*2111insGTTTGTT... | |
| NM_018211.3:c.*2110_*2111insGTTTGTTTGTT | NP_060681.2:n.*2110_*2111insGTTTGTTTGTT | |
| XM_006710738.2:c.*2110_*2111insGTTTGTTTGTT | XP_006710801.2:n.*2110_*2111insGTTTGTTTGT... | |
| NM_001366165.1:c.*2110_*2111insGTTTGTTTGTT | NP_001353094.1:n.*2110_*2111insGTTTGTTTGT... | |
| XR_946693.3:n.4529_4530insGTTTGTTTGTT | ||
| NM_018211.4:c.*2110_*2111insGTTTGTTTGTT | NP_060681.2:n.*2110_*2111insGTTTGTTTGTT | |
| NM_001366165.2:c.*2110_*2111insGTTTGTTTGTT MANE Select | NP_001353094.1:n.*2110_*2111insGTTTGTTTGT... |