Linked Data
dbSNP Id:
rs1165389754
gnomAD v2:
8-119123907-G-GCCC
gnomAD v3:
8-118111668-G-GCCC
gnomAD v4:
8-118111668-G-GCCC
MyVariant Identifiers:
chr8:g.119123907_119123908insCCC (hg19)
chr8:g.118111668_118111669insCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111671_118111673dup , CM000670.2:g.118111671_118111673dup | GRCh38 |
| NC_000008.10:g.119123910_119123912dup , CM000670.1:g.119123910_119123912dup | GRCh37 |
| NC_000008.9:g.119193091_119193093dup | NCBI36 |
| NG_007455.2:g.5149_5151dup , LRG_493:g.5149_5151dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-625_-623dup MANE Select | ENSP00000367446.3:n.-625_-623dup | |
| ENST00000378204.6:c.-625_-623dup | ENSP00000367446.2:n.-625_-623dup | |
| NM_000127.2:c.-625_-623dup , LRG_493t1:c.-625_-623dup | NP_000118.2:n.-625_-623dup | |
| NM_000127.3:c.-625_-623dup MANE Select | NP_000118.2:n.-625_-623dup |