Linked Data
gnomAD v4:
1-100539543-C-CCGGCGCTGCTGGCCGCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539557_100539574dup , CM000663.2:g.100539557_100539574dup | GRCh38 |
| NC_000001.10:g.101005113_101005130dup , CM000663.1:g.101005113_101005130dup | GRCh37 |
| NC_000001.9:g.100777701_100777718dup | NCBI36 |
| NG_053134.1:g.6386_6403dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.591_608dup MANE Select | ENSP00000314223.4:p.Ala203_Gln204insAlaAlaAlaLeuLeuAla | |
| ENST00000315033.4:c.591_608dup | ENSP00000314223.4:p.Ala203_Gln204insAlaAlaAlaLeuLeuAla | |
| NM_022049.2:c.591_608dup | NP_071332.2:p.Ala203_Gln204insAlaAlaAlaLeuLeuAla | |
| NM_022049.3:c.591_608dup MANE Select | NP_071332.2:p.Ala203_Gln204insAlaAlaAlaLeuLeuAla |