Linked Data
dbSNP Id:
rs1557655007
gnomAD v2:
1-94883996-G-GCCGCCGCCC
gnomAD v4:
1-94418440-G-GCCGCCGCCC
MyVariant Identifiers:
chr1:g.94883996_94883997insCCGCCGCCC (hg19)
chr1:g.94418440_94418441insCCGCCGCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418444_94418445insCGCCCCCGC , CM000663.2:g.94418444_94418445insCGCCCCCGC | GRCh38 |
| NC_000001.10:g.94884000_94884001insCGCCCCCGC , CM000663.1:g.94884000_94884001insCGCCCCCGC | GRCh37 |
| NC_000001.9:g.94656588_94656589insCGCCCCCGC | NCBI36 |
| NG_008865.1:g.5068_5069insCGCCCCCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.-35_-34insCGCCCCCGC MANE Select | ENSP00000359233.4:n.-35_-34insCGCCCCCGC | |
| NM_001122674.1:c.-35_-34insCGCCCCCGC | NP_001116146.1:n.-35_-34insCGCCCCCGC | |
| NM_002858.3:c.-35_-34insCGCCCCCGC | NP_002849.1:n.-35_-34insCGCCCCCGC | |
| XM_006710802.2:c.-35_-34insCGCCCCCGC | XP_006710865.2:n.-35_-34insCGCCCCCGC | |
| NM_002858.4:c.-35_-34insCGCCCCCGC MANE Select | NP_002849.1:n.-35_-34insCGCCCCCGC | |
| NM_001122674.2:c.-35_-34insCGCCCCCGC | NP_001116146.1:n.-35_-34insCGCCCCCGC |