Linked Data
dbSNP Id:
rs60055215
gnomAD v3:
7-66087243-C-CGTGTGTGT
gnomAD v4:
7-66087243-C-CGTGTGTGT
MyVariant Identifiers:
chr7:g.65552230_65552231insGTGTGTGT (hg19)
chr7:g.66087243_66087244insGTGTGTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66087276_66087283dup , CM000669.2:g.66087276_66087283dup | GRCh38 |
| NC_000007.13:g.65552263_65552270dup , CM000669.1:g.65552263_65552270dup | GRCh37 |
| NC_000007.12:g.65189698_65189705dup | NCBI36 |
| NG_009288.1:g.16488_16495dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.603-58_603-51dup MANE Select | ENSP00000307188.9:n.603-58_603-51dup | |
| ENST00000362000.10:c.408-58_408-51dup | ENSP00000354710.6:n.408-58_408-51dup | |
| ENST00000380839.9:c.525-58_525-51dup | ENSP00000370219.4:n.525-58_525-51dup | |
| ENST00000395331.4:c.603-58_603-51dup | ENSP00000378740.3:n.603-58_603-51dup | |
| ENST00000395332.8:c.603-58_603-51dup | ENSP00000378741.3:n.603-58_603-51dup | |
| ENST00000671817.1:c.525-58_525-51dup | ENSP00000500462.1:n.525-58_525-51dup | |
| ENST00000672498.1:c.447-453_447-446dup | ENSP00000500227.1:n.447-453_447-446dup | |
| ENST00000672586.1:n.962_969dup | ||
| ENST00000672676.1:n.1227_1234dup | ||
| ENST00000673149.1:n.415-58_415-51dup | ||
| ENST00000673350.1:n.1305_1312dup | ||
| ENST00000673518.1:c.525-58_525-51dup | ENSP00000499889.1:n.525-58_525-51dup | |
| ENST00000673594.1:n.452-58_452-51dup | ||
| ENST00000304874.13:c.603-58_603-51dup | ENSP00000307188.9:n.603-58_603-51dup | |
| ENST00000362000.9:c.408-58_408-51dup | ENSP00000354710.5:n.408-58_408-51dup | |
| ENST00000380839.8:c.525-58_525-51dup | ENSP00000370219.4:n.525-58_525-51dup | |
| ENST00000395331.3:c.603-58_603-51dup | ENSP00000378740.3:n.603-58_603-51dup | |
| ENST00000395332.7:c.603-58_603-51dup | ENSP00000378741.3:n.603-58_603-51dup | |
| NM_000048.3:c.603-58_603-51dup | NP_000039.2:n.603-58_603-51dup | |
| NM_001024943.1:c.603-58_603-51dup | NP_001020114.1:n.603-58_603-51dup | |
| NM_001024944.1:c.603-58_603-51dup | NP_001020115.1:n.603-58_603-51dup | |
| NM_001024946.1:c.525-58_525-51dup | NP_001020117.1:n.525-58_525-51dup | |
| NM_000048.4:c.603-58_603-51dup MANE Select | NP_000039.2:n.603-58_603-51dup | |
| NM_001024943.2:c.603-58_603-51dup | NP_001020114.1:n.603-58_603-51dup | |
| NM_001024944.2:c.603-58_603-51dup | NP_001020115.1:n.603-58_603-51dup | |
| NM_001024946.2:c.525-58_525-51dup | NP_001020117.1:n.525-58_525-51dup |