Linked Data
dbSNP Id:
rs1350970448
gnomAD v3:
7-150955561-C-CTCA
gnomAD v4:
7-150955561-C-CTCA
MyVariant Identifiers:
chr7:g.150652649_150652650insTCA (hg19)
chr7:g.150955561_150955562insTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150955562_150955564dup , CM000669.2:g.150955562_150955564dup | GRCh38 |
| NC_000007.13:g.150652650_150652652dup , CM000669.1:g.150652650_150652652dup | GRCh37 |
| NC_000007.12:g.150283583_150283585dup | NCBI36 |
| NG_008916.1:g.27363_27365dup , LRG_288:g.27363_27365dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.258_260dup | ||
| ENST00000684241.1:n.1961+1727_1961+1729dup | ||
| ENST00000262186.10:c.1128+1727_1128+1729dup MANE Select | ENSP00000262186.5:n.1128+1727_1128+1729dup | |
| ENST00000330883.9:c.-61_-59dup | ENSP00000328531.4:n.-61_-59dup | |
| ENST00000262186.9:c.1128+1727_1128+1729dup | ENSP00000262186.5:n.1128+1727_1128+1729dup | |
| ENST00000330883.8:c.-61_-59dup | ENSP00000328531.4:n.-61_-59dup | |
| ENST00000430723.4:c.780+1727_780+1729dup | ENSP00000387657.4:n.780+1727_780+1729dup | |
| ENST00000461280.1:n.247_249dup | ||
| ENST00000473610.5:n.265_267dup | ||
| ENST00000532957.5:n.1351+1727_1351+1729dup | ||
| NM_000238.3:c.1128+1727_1128+1729dup , LRG_288t1:c.1128+1727_1128+1729dup | NP_000229.1:n.1128+1727_1128+1729dup | |
| NM_001204798.1:c.-61_-59dup | NP_001191727.1:n.-61_-59dup | |
| NM_172056.2:c.1128+1727_1128+1729dup , LRG_288t2:c.1128+1727_1128+1729dup | NP_742053.1:n.1128+1727_1128+1729dup | |
| NM_172057.2:c.-61_-59dup , LRG_288t3:c.-61_-59dup | NP_742054.1:n.-61_-59dup | |
| XM_011516185.1:c.828+1727_828+1729dup | XP_011514487.1:n.828+1727_828+1729dup | |
| XM_011516186.1:c.1128+1727_1128+1729dup | XP_011514488.1:n.1128+1727_1128+1729dup | |
| XM_011516185.2:c.828+1727_828+1729dup | XP_011514487.1:n.828+1727_828+1729dup | |
| XM_011516186.3:c.1128+1727_1128+1729dup | XP_011514488.1:n.1128+1727_1128+1729dup | |
| XM_017012195.1:c.978+1727_978+1729dup | XP_016867684.1:n.978+1727_978+1729dup | |
| XM_017012196.1:c.951+1727_951+1729dup | XP_016867685.1:n.951+1727_951+1729dup | |
| NM_000238.4:c.1128+1727_1128+1729dup MANE Select | NP_000229.1:n.1128+1727_1128+1729dup | |
| NM_001204798.2:c.-61_-59dup | NP_001191727.1:n.-61_-59dup | |
| NM_172057.3:c.-61_-59dup | NP_742054.1:n.-61_-59dup |