Linked Data
dbSNP Id:
rs1419299126
MyVariant Identifiers:
chr5:g.126778431_126778432insGTAA (hg19)
chr5:g.127442739_127442740insGTAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127442743_127442746dup , CM000667.2:g.127442743_127442746dup | GRCh38 |
| NC_000005.9:g.126778435_126778438dup , CM000667.1:g.126778435_126778438dup | GRCh37 |
| NC_000005.8:g.126806334_126806337dup | NCBI36 |
| NG_032072.1:g.156980_156983dup | |
| NG_032072.2:g.156980_156983dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503335.7:c.2363-255_2363-252dup MANE Select | ENSP00000423354.2:n.2363-255_2363-252dup | |
| ENST00000274473.6:c.2363-255_2363-252dup | ENSP00000274473.6:n.2363-255_2363-252dup | |
| ENST00000503335.6:c.2363-255_2363-252dup | ENSP00000423354.2:n.2363-255_2363-252dup | |
| NM_001256545.1:c.2363-255_2363-252dup | NP_001243474.1:n.2363-255_2363-252dup | |
| NM_032446.2:c.2363-255_2363-252dup | NP_115822.1:n.2363-255_2363-252dup | |
| XM_011543692.1:c.2363-255_2363-252dup | XP_011541994.1:n.2363-255_2363-252dup | |
| XM_011543693.1:c.2363-255_2363-252dup | XP_011541995.1:n.2363-255_2363-252dup | |
| XM_011543694.1:c.2363-255_2363-252dup | XP_011541996.1:n.2363-255_2363-252dup | |
| XM_017009987.1:c.2528-255_2528-252dup | XP_016865476.1:n.2528-255_2528-252dup | |
| XM_017009988.1:c.1223-255_1223-252dup | XP_016865477.1:n.1223-255_1223-252dup | |
| NM_001256545.2:c.2363-255_2363-252dup MANE Select | NP_001243474.1:n.2363-255_2363-252dup | |
| NM_032446.3:c.2363-255_2363-252dup | NP_115822.1:n.2363-255_2363-252dup |