Linked Data
dbSNP Id:
rs781502420
ExAC:
3:42729605 C / CGGTA
gnomAD v2:
3-42729605-C-CGGTA
gnomAD v4:
3-42688113-C-CGGTA
MyVariant Identifiers:
chr3:g.42729605_42729606insGGTA (hg19)
chr3:g.42688113_42688114insGGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42688115_42688118dup , CM000665.2:g.42688115_42688118dup | GRCh38 |
| NC_000003.11:g.42729607_42729610dup , CM000665.1:g.42729607_42729610dup | GRCh37 |
| NC_000003.10:g.42704611_42704614dup | NCBI36 |
| NG_033035.1:g.7597_7600dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287777.5:c.1153-27_1153-24dup MANE Select | ENSP00000287777.4:n.1153-27_1153-24dup | |
| ENST00000287777.4:c.1153-27_1153-24dup | ENSP00000287777.4:n.1153-27_1153-24dup | |
| NM_152393.3:c.1153-27_1153-24dup | NP_689606.2:n.1153-27_1153-24dup | |
| XM_005264866.2:c.1153-27_1153-24dup | XP_005264923.1:n.1153-27_1153-24dup | |
| NM_152393.4:c.1153-27_1153-24dup MANE Select | NP_689606.2:n.1153-27_1153-24dup |