Linked Data
dbSNP Id:
rs1569111783
gnomAD v2:
22-50659407-GGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGA-G
gnomAD v3:
22-50220978-GGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGA-G
gnomAD v4:
22-50220978-GGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGA-G
MyVariant Identifiers:
chr22:g.50659408_50659488del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221000_50221080del , CM000684.2:g.50221000_50221080del | GRCh38 |
| NC_000022.10:g.50659429_50659509del , CM000684.1:g.50659429_50659509del | GRCh37 |
| NC_000022.9:g.49001556_49001636del | NCBI36 |
| NG_032160.1:g.28913_28993del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3300_3380del MANE Select | ENSP00000248846.5:p.Arg1101_Thr1127del | |
| ENST00000248846.9:c.3300_3380del | ENSP00000248846.5:p.Arg1101_Thr1127del | |
| ENST00000439308.6:c.3300_3380del | ENSP00000397387.2:p.Arg1101_Thr1127del | |
| ENST00000491449.5:n.1607_1687del | ||
| ENST00000498611.5:n.3617+216_3617+296del | ||
| NM_020461.3:c.3300_3380del | NP_065194.2:p.Arg1101_Thr1127del | |
| XR_938347.1:n.3865_3945del | ||
| XR_938348.1:n.3049+969_3050-964del | ||
| XR_001755343.2:n.3869_3949del | ||
| XR_001755344.2:n.3869_3949del | ||
| XR_002958720.1:n.3053+969_3054-964del | ||
| XR_938347.2:n.3869_3949del | ||
| NM_020461.4:c.3300_3380del MANE Select | NP_065194.3:p.Arg1101_Thr1127del |