Linked Data
ClinVar Variation Id:
1810551
ClinVar RCV Id:
RCV002510038
dbSNP Id:
rs955563168
gnomAD v3:
4-41745990-T-TGCCGCCGCC
gnomAD v4:
4-41745990-T-TGCCGCCGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745996_41746004dup , CM000666.2:g.41745996_41746004dup | GRCh38 |
| NC_000004.11:g.41748013_41748021dup , CM000666.1:g.41748013_41748021dup | GRCh37 |
| NC_000004.10:g.41442770_41442778dup | NCBI36 |
| NG_008243.1:g.7972_7980dup , LRG_513:g.7972_7980dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.753_761dup MANE Select | ENSP00000226382.2:p.Ala254_Ala255insAlaAlaAla | |
| ENST00000226382.3:c.753_761dup | ENSP00000226382.2:p.Ala254_Ala255insAlaAlaAla | |
| NM_003924.3:c.753_761dup , LRG_513t1:c.753_761dup | NP_003915.2:p.Ala254_Ala255insAlaAlaAla | |
| NM_003924.4:c.753_761dup MANE Select | NP_003915.2:p.Ala254_Ala255insAlaAlaAla |