Linked Data
gnomAD v4:
5-149977873-T-TGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977875_149977877dup , CM000667.2:g.149977875_149977877dup | GRCh38 |
| NC_000005.9:g.149357438_149357440dup , CM000667.1:g.149357438_149357440dup | GRCh37 |
| NC_000005.8:g.149337631_149337633dup | NCBI36 |
| NG_007147.2:g.18993_18995dup , LRG_684:g.18993_18995dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.455_457dup | ||
| ENST00000286298.5:c.223_225dup MANE Select | ENSP00000286298.4:p.Gln75_Lys76insGln | |
| ENST00000286298.4:c.223_225dup | ENSP00000286298.4:p.Gln75_Lys76insGln | |
| NM_000112.3:c.223_225dup , LRG_684t1:c.223_225dup | NP_000103.2:p.Gln75_Lys76insGln | |
| XM_017009191.2:c.223_225dup | XP_016864680.1:p.Gln75_Lys76insGln | |
| NM_000112.4:c.223_225dup MANE Select | NP_000103.2:p.Gln75_Lys76insGln |