Linked Data
gnomAD v4:
12-65170057-C-CCGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170067_65170069dup , CM000674.2:g.65170067_65170069dup | GRCh38 |
| NC_000012.11:g.65563847_65563849dup , CM000674.1:g.65563847_65563849dup | GRCh37 |
| NC_000012.10:g.63850114_63850116dup | NCBI36 |
| NG_016210.1:g.5497_5499dup | |
| NG_016210.2:g.5497_5499dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.471_473dup MANE Select | ENSP00000308369.2:p.Gly158_Arg159insGly | |
| ENST00000308330.2:c.471_473dup | ENSP00000308369.2:p.Gly158_Arg159insGly | |
| ENST00000541171.1:n.485_487dup | ||
| NM_001167614.1:c.471_473dup | NP_001161086.1:p.Gly158_Arg159insGly | |
| NM_014319.4:c.471_473dup | NP_055134.2:p.Gly158_Arg159insGly | |
| NM_014319.5:c.471_473dup MANE Select | NP_055134.2:p.Gly158_Arg159insGly | |
| NM_001167614.2:c.471_473dup | NP_001161086.1:p.Gly158_Arg159insGly |