Linked Data
dbSNP Id:
rs375525903
gnomAD v2:
1-6537813-T-TGCTCCGACCTGGG
gnomAD v3:
1-6477753-T-TGCTCCGACCTGGG
gnomAD v4:
1-6477753-T-TGCTCCGACCTGGG
MyVariant Identifiers:
chr1:g.6537813_6537814insGCTCCGACCTGGG (hg19)
chr1:g.6477753_6477754insGCTCCGACCTGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6477753_6477754insGCTCCGACCTGGG , CM000663.2:g.6477753_6477754insGCTCCGACCTGGG | GRCh38 |
| NC_000001.10:g.6537813_6537814insGCTCCGACCTGGG , CM000663.1:g.6537813_6537814insGCTCCGACCTGGG | GRCh37 |
| NC_000001.9:g.6460400_6460401insGCTCCGACCTGGG | NCBI36 |
| NG_007978.1:g.47256_47257insCCCAGGTCGGAGC , LRG_262:g.47256_47257insCCCAGGTCGGAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.-87-96_-87-95insCCCAGGTCGGAGC | ENSP00000344570.5:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000377728.8:c.-87-96_-87-95insCCCAGGTCGGAGC MANE Select | ENSP00000366957.3:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000377740.5:c.-87-96_-87-95insCCCAGGTCGGAGC | ENSP00000366969.4:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000377748.6:c.25-96_25-95insCCCAGGTCGGAGC | ENSP00000366977.2:n.25-96_25-95insCCCAGGTCGGAGC | |
| ENST00000400913.6:c.-87-96_-87-95insCCCAGGTCGGAGC | ENSP00000383704.1:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000400915.8:c.25-96_25-95insCCCAGGTCGGAGC | ENSP00000383706.4:n.25-96_25-95insCCCAGGTCGGAGC | |
| ENST00000535355.6:c.121-96_121-95insCCCAGGTCGGAGC | ENSP00000441445.1:n.121-96_121-95insCCCAGGTCGGAGC | |
| ENST00000537245.6:c.25-96_25-95insCCCAGGTCGGAGC | ENSP00000439625.2:n.25-96_25-95insCCCAGGTCGGAGC | |
| ENST00000673471.2:c.211-96_211-95insCCCAGGTCGGAGC | ENSP00000500749.1:n.211-96_211-95insCCCAGGTCGGAGC | |
| ENST00000674790.1:c.*126-96_*126-95insCCCAGGTCGGAGC | ENSP00000502815.1:n.*126-96_*126-95insCCCAGGTCGGAGC | |
| ENST00000674803.1:n.144-96_144-95insCCCAGGTCGGAGC | ||
| ENST00000675093.1:c.-87-96_-87-95insCCCAGGTCGGAGC | ENSP00000502687.1:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000675548.1:c.99-96_99-95insCCCAGGTCGGAGC | ENSP00000502684.1:n.99-96_99-95insCCCAGGTCGGAGC | |
| ENST00000675655.1:n.120-96_120-95insCCCAGGTCGGAGC | ||
| ENST00000675694.1:c.-87-96_-87-95insCCCAGGTCGGAGC | ENSP00000501925.1:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000676287.1:c.-87-96_-87-95insCCCAGGTCGGAGC | ENSP00000502810.1:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000676362.1:n.137-96_137-95insCCCAGGTCGGAGC | ||
| ENST00000340850.9:c.-87-96_-87-95insCCCAGGTCGGAGC | ENSP00000344570.5:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000377725.5:c.-87-96_-87-95insCCCAGGTCGGAGC | ENSP00000366954.1:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000377728.7:c.-87-96_-87-95insCCCAGGTCGGAGC | ENSP00000366957.3:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000377732.5:c.25-96_25-95insCCCAGGTCGGAGC | ENSP00000366961.1:n.25-96_25-95insCCCAGGTCGGAGC | |
| ENST00000377740.4:c.145-96_145-95insCCCAGGTCGGAGC | ENSP00000366969.3:n.145-96_145-95insCCCAGGTCGGAGC | |
| ENST00000377748.5:c.145-96_145-95insCCCAGGTCGGAGC | ENSP00000366977.1:n.145-96_145-95insCCCAGGTCGGAGC | |
| ENST00000400913.5:c.-87-96_-87-95insCCCAGGTCGGAGC | ENSP00000383704.1:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| ENST00000400915.7:c.82-96_82-95insCCCAGGTCGGAGC | ENSP00000383706.3:n.82-96_82-95insCCCAGGTCGGAGC | |
| ENST00000535355.5:c.121-96_121-95insCCCAGGTCGGAGC | ENSP00000441445.1:n.121-96_121-95insCCCAGGTCGGAGC | |
| ENST00000537245.5:c.151-96_151-95insCCCAGGTCGGAGC | ENSP00000439625.1:n.151-96_151-95insCCCAGGTCGGAGC | |
| NM_001042663.1:c.82-96_82-95insCCCAGGTCGGAGC | NP_001036128.1:n.82-96_82-95insCCCAGGTCGGAGC | |
| NM_001042664.1:c.-87-96_-87-95insCCCAGGTCGGAGC | NP_001036129.1:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| NM_001042665.1:c.-87-96_-87-95insCCCAGGTCGGAGC | NP_001036130.1:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| NM_001265592.1:c.151-96_151-95insCCCAGGTCGGAGC | NP_001252521.1:n.151-96_151-95insCCCAGGTCGGAGC | |
| NM_001265593.1:c.121-96_121-95insCCCAGGTCGGAGC | NP_001252522.1:n.121-96_121-95insCCCAGGTCGGAGC | |
| NM_001265594.1:c.-87-96_-87-95insCCCAGGTCGGAGC | NP_001252523.1:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| NM_020631.4:c.-87-96_-87-95insCCCAGGTCGGAGC | NP_065682.2:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| NM_198681.3:c.145-96_145-95insCCCAGGTCGGAGC | NP_941374.2:n.145-96_145-95insCCCAGGTCGGAGC | |
| NM_001042663.2:c.82-96_82-95insCCCAGGTCGGAGC | NP_001036128.1:n.82-96_82-95insCCCAGGTCGGAGC | |
| NM_001265594.2:c.-87-96_-87-95insCCCAGGTCGGAGC | NP_001252523.1:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| NM_020631.5:c.-87-96_-87-95insCCCAGGTCGGAGC | NP_065682.2:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| NM_001042663.3:c.25-96_25-95insCCCAGGTCGGAGC | NP_001036128.2:n.25-96_25-95insCCCAGGTCGGAGC | |
| NM_001265592.2:c.25-96_25-95insCCCAGGTCGGAGC | NP_001252521.2:n.25-96_25-95insCCCAGGTCGGAGC | |
| NM_020631.6:c.-87-96_-87-95insCCCAGGTCGGAGC MANE Select | NP_065682.2:n.-87-96_-87-95insCCCAGGTCGGAGC | |
| NM_198681.4:c.-87-96_-87-95insCCCAGGTCGGAGC | NP_941374.3:n.-87-96_-87-95insCCCAGGTCGGAGC |