Linked Data
gnomAD v2:
1-209974551-C-CAAA
gnomAD v3:
1-209801206-C-CAAA
gnomAD v4:
1-209801206-C-CAAA
MyVariant Identifiers:
chr1:g.209974551_209974552insAAA (hg19)
chr1:g.209801206_209801207insAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209801206_209801207insAAA , CM000663.2:g.209801206_209801207insAAA | GRCh38 |
| NC_000001.10:g.209974551_209974552insAAA , CM000663.1:g.209974551_209974552insAAA | GRCh37 |
| NC_000001.9:g.208041174_208041175insAAA | NCBI36 |
| NG_007081.2:g.9928_9929insTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.174+33_174+34insTTT | ENSP00000512426.1:n.174+33_174+34insTTT | |
| ENST00000696134.1:c.174+33_174+34insTTT | ENSP00000512427.1:n.174+33_174+34insTTT | |
| ENST00000367021.8:c.174+33_174+34insTTT MANE Select | ENSP00000355988.3:n.174+33_174+34insTTT | |
| ENST00000643798.1:c.174+33_174+34insTTT | ENSP00000496669.1:n.174+33_174+34insTTT | |
| ENST00000367021.7:c.174+33_174+34insTTT | ENSP00000355988.3:n.174+33_174+34insTTT | |
| ENST00000456314.1:c.174+33_174+34insTTT | ENSP00000403855.1:n.174+33_174+34insTTT | |
| ENST00000542854.5:c.-111-4655_-111-4654insTTT | ENSP00000440532.1:n.-111-4655_-111-4654insTTT | |
| NM_001206696.1:c.-111-4655_-111-4654insTTT | NP_001193625.1:n.-111-4655_-111-4654insTTT | |
| NM_006147.3:c.174+33_174+34insTTT | NP_006138.1:n.174+33_174+34insTTT | |
| NM_006147.4:c.174+33_174+34insTTT MANE Select | NP_006138.1:n.174+33_174+34insTTT | |
| NM_001206696.2:c.-111-4655_-111-4654insTTT | NP_001193625.1:n.-111-4655_-111-4654insTTT |