Linked Data
dbSNP Id:
rs375992381
gnomAD v3:
1-154447442-A-ATATATATATAT
gnomAD v4:
1-154447442-A-ATATATATATAT
MyVariant Identifiers:
chr1:g.154419918_154419919insTATATATATAT (hg19)
chr1:g.154447442_154447443insTATATATATAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154447442_154447443insTATATATATAT , CM000663.2:g.154447442_154447443insTATATATATAT | GRCh38 |
| NC_000001.10:g.154419918_154419919insTATATATATAT , CM000663.1:g.154419918_154419919insTATATATATAT | GRCh37 |
| NC_000001.9:g.152686542_152686543insTATATATATAT | NCBI36 |
| NG_012087.1:g.47250_47251insTATATATATAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.950-683_950-682insTATATATATAT MANE Select | ENSP00000357470.3:n.950-683_950-682insTATATATATAT | |
| ENST00000344086.8:c.950-683_950-682insTATATATATAT | ENSP00000340589.4:n.950-683_950-682insTATATATATAT | |
| ENST00000368485.7:c.950-683_950-682insTATATATATAT | ENSP00000357470.3:n.950-683_950-682insTATATATATAT | |
| ENST00000476006.5:c.766-683_766-682insTATATATATAT | ||
| ENST00000507256.1:n.148-683_148-682insTATATATATAT | ||
| ENST00000515190.1:c.358-683_358-682insTATATATATAT | ||
| NM_000565.3:c.950-683_950-682insTATATATATAT | NP_000556.1:n.950-683_950-682insTATATATATAT | |
| NM_181359.2:c.950-683_950-682insTATATATATAT | NP_852004.1:n.950-683_950-682insTATATATATAT | |
| XM_005245139.1:c.808-683_808-682insTATATATATAT | XP_005245196.1:n.808-683_808-682insTATATATATAT | |
| XM_005245140.1:c.808-683_808-682insTATATATATAT | XP_005245197.1:n.808-683_808-682insTATATATATAT | |
| XM_006711298.1:c.998-683_998-682insTATATATATAT | XP_006711361.1:n.998-683_998-682insTATATATATAT | |
| XM_006711299.2:c.998-683_998-682insTATATATATAT | XP_006711362.1:n.998-683_998-682insTATATATATAT | |
| XM_005245139.2:c.808-683_808-682insTATATATATAT | XP_005245196.1:n.808-683_808-682insTATATATATAT | |
| XM_005245140.3:c.808-683_808-682insTATATATATAT | XP_005245197.1:n.808-683_808-682insTATATATATAT | |
| XM_006711298.2:c.998-683_998-682insTATATATATAT | XP_006711361.1:n.998-683_998-682insTATATATATAT | |
| XM_006711299.4:c.998-683_998-682insTATATATATAT | XP_006711362.1:n.998-683_998-682insTATATATATAT | |
| XM_017001199.2:c.998-683_998-682insTATATATATAT | XP_016856688.1:n.998-683_998-682insTATATATATAT | |
| XM_017001200.2:c.950-683_950-682insTATATATATAT | XP_016856689.1:n.950-683_950-682insTATATATATAT | |
| XM_017001201.2:c.808-683_808-682insTATATATATAT | XP_016856690.1:n.808-683_808-682insTATATATATAT | |
| NM_000565.4:c.950-683_950-682insTATATATATAT MANE Select | NP_000556.1:n.950-683_950-682insTATATATATAT | |
| NM_181359.3:c.950-683_950-682insTATATATATAT | NP_852004.1:n.950-683_950-682insTATATATATAT | |
| NM_001382769.1:c.950-683_950-682insTATATATATAT | NP_001369698.1:n.950-683_950-682insTATATATATAT | |
| NM_001382770.1:c.1043-683_1043-682insTATATATATAT | NP_001369699.1:n.1043-683_1043-682insTATATATATAT | |
| NM_001382771.1:c.998-683_998-682insTATATATATAT | NP_001369700.1:n.998-683_998-682insTATATATATAT | |
| NM_001382772.1:c.944-683_944-682insTATATATATAT | NP_001369701.1:n.944-683_944-682insTATATATATAT | |
| NM_001382773.1:c.998-683_998-682insTATATATATAT | NP_001369702.1:n.998-683_998-682insTATATATATAT | |
| NM_001382774.1:c.590-683_590-682insTATATATATAT | NP_001369703.1:n.590-683_590-682insTATATATATAT |