Linked Data
dbSNP Id:
rs1246966610
gnomAD v3:
7-130395255-G-GA
gnomAD v4:
7-130395255-G-GA
MyVariant Identifiers:
chr7:g.130395255_130395256insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130395261dup , CM000669.2:g.130395261dup | GRCh38 |
| NC_000007.13:g.130035102dup , CM000669.1:g.130035102dup | GRCh37 |
| NC_000007.12:g.129822338dup | NCBI36 |
| NG_032164.1:g.50955dup | |
| NG_032164.2:g.50955dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223208.10:c.*3635dup MANE Select | ENSP00000223208.4:n.*3635dup | |
| ENST00000541543.6:c.*3635dup | ENSP00000445888.2:n.*3635dup | |
| ENST00000675649.1:c.*3635dup | ENSP00000502385.1:n.*3635dup | |
| ENST00000223208.9:c.*3635dup | ENSP00000223208.4:n.*3635dup | |
| ENST00000541543.5:c.*3635dup | ENSP00000445888.1:n.*3635dup | |
| NM_001257158.1:c.*3635dup | NP_001244087.1:n.*3635dup | |
| NM_001257159.1:c.*3635dup | NP_001244088.1:n.*3635dup | |
| NM_018718.2:c.*3635dup | NP_061188.1:n.*3635dup | |
| NR_046443.1:n.4925dup | ||
| NM_018718.3:c.*3635dup MANE Select | NP_061188.1:n.*3635dup | |
| NM_001257158.2:c.*3635dup | NP_001244087.1:n.*3635dup | |
| NR_046443.2:n.4731dup | ||
| NM_001257159.2:c.*3635dup | NP_001244088.1:n.*3635dup |