Linked Data
ClinVar Variation Id:
1059064
ClinVar RCV Id:
RCV001368276
dbSNP Id:
rs2153112747
gnomAD v4:
4-41745913-A-ATGGGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745914_41745919dup , CM000666.2:g.41745914_41745919dup | GRCh38 |
| NC_000004.11:g.41747931_41747936dup , CM000666.1:g.41747931_41747936dup | GRCh37 |
| NC_000004.10:g.41442688_41442693dup | NCBI36 |
| NG_008243.1:g.8052_8057dup , LRG_513:g.8052_8057dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.833_838dup MANE Select | ENSP00000226382.2:p.Pro279_Ile280insSerPro | |
| ENST00000226382.3:c.833_838dup | ENSP00000226382.2:p.Pro279_Ile280insSerPro | |
| NM_003924.3:c.833_838dup , LRG_513t1:c.833_838dup | NP_003915.2:p.Pro279_Ile280insSerPro | |
| NM_003924.4:c.833_838dup MANE Select | NP_003915.2:p.Pro279_Ile280insSerPro |