Linked Data
gnomAD v4:
2-135789732-G-GCCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135789734_135789737dup , CM000664.2:g.135789734_135789737dup | GRCh38 |
| NC_000002.11:g.136547304_136547307dup , CM000664.1:g.136547304_136547307dup | GRCh37 |
| NC_000002.10:g.136263774_136263777dup | NCBI36 |
| NG_008104.2:g.70434_70437dup , LRG_338:g.70434_70437dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.5398_5401dup MANE Select | ENSP00000264162.2:p.Ala1801ValfsTer18 | |
| ENST00000264162.6:c.5398_5401dup | ENSP00000264162.2:p.Ala1801ValfsTer18 | |
| NM_002299.2:c.5398_5401dup , LRG_338t1:c.5398_5401dup | NP_002290.2:p.Ala1801ValfsTer18 | |
| NM_002299.3:c.5398_5401dup | NP_002290.2:p.Ala1801ValfsTer18 | |
| NM_002299.4:c.5398_5401dup MANE Select | NP_002290.2:p.Ala1801ValfsTer18 |