Linked Data
dbSNP Id:
rs1276640306
gnomAD v2:
22-19906792-C-CACCCCA
gnomAD v3:
22-19919269-C-CACCCCA
gnomAD v4:
22-19919269-C-CACCCCA
MyVariant Identifiers:
chr22:g.19906792_19906793insACCCCA (hg19)
chr22:g.19919269_19919270insACCCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19919271_19919272insCCCAAC , CM000684.2:g.19919271_19919272insCCCAAC | GRCh38 |
| NC_000022.10:g.19906794_19906795insCCCAAC , CM000684.1:g.19906794_19906795insCCCAAC | GRCh37 |
| NC_000022.9:g.18286794_18286795insCCCAAC | NCBI36 |
| NG_011835.1:g.27567_27568insTGGGGT , LRG_417:g.27567_27568insTGGGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.230-266_230-265insTGGGGT MANE Select | ENSP00000383365.1:n.230-266_230-265insTGGGGT | |
| ENST00000334363.14:c.230-266_230-265insTGGGGT | ENSP00000334451.9:n.230-266_230-265insTGGGGT | |
| ENST00000400518.5:c.140-266_140-265insTGGGGT | ENSP00000383362.1:n.140-266_140-265insTGGGGT | |
| ENST00000400519.6:c.227-266_227-265insTGGGGT | ENSP00000383363.1:n.227-266_227-265insTGGGGT | |
| ENST00000400521.6:c.230-266_230-265insTGGGGT | ENSP00000383365.1:n.230-266_230-265insTGGGGT | |
| ENST00000400525.6:c.161-266_161-265insTGGGGT | ENSP00000383369.3:n.161-266_161-265insTGGGGT | |
| ENST00000474308.5:c.173-266_173-265insTGGGGT | ENSP00000485665.1:n.173-266_173-265insTGGGGT | |
| ENST00000491939.6:c.134-266_134-265insTGGGGT | ENSP00000485543.1:n.134-266_134-265insTGGGGT | |
| ENST00000496729.2:n.235-266_235-265insTGGGGT | ||
| ENST00000542719.6:c.-59-266_-59-265insTGGGGT | ENSP00000485128.2:n.-59-266_-59-265insTGGGGT | |
| NM_001282512.1:c.230-266_230-265insTGGGGT | NP_001269441.1:n.230-266_230-265insTGGGGT | |
| NM_006440.4:c.230-266_230-265insTGGGGT | NP_006431.2:n.230-266_230-265insTGGGGT | |
| NM_001282512.2:c.230-266_230-265insTGGGGT | NP_001269441.1:n.230-266_230-265insTGGGGT | |
| NM_001352300.1:c.227-266_227-265insTGGGGT | NP_001339229.1:n.227-266_227-265insTGGGGT | |
| NM_001352301.1:c.140-266_140-265insTGGGGT | NP_001339230.1:n.140-266_140-265insTGGGGT | |
| NM_001352302.1:c.-59-266_-59-265insTGGGGT | NP_001339231.1:n.-59-266_-59-265insTGGGGT | |
| NM_001352303.1:c.134-266_134-265insTGGGGT | NP_001339232.1:n.134-266_134-265insTGGGGT | |
| NR_147957.1:n.362-266_362-265insTGGGGT | ||
| NM_006440.5:c.230-266_230-265insTGGGGT MANE Select | NP_006431.2:n.230-266_230-265insTGGGGT | |
| NM_001282512.3:c.230-266_230-265insTGGGGT | NP_001269441.1:n.230-266_230-265insTGGGGT | |
| NM_001352300.2:c.227-266_227-265insTGGGGT | NP_001339229.1:n.227-266_227-265insTGGGGT | |
| NR_147957.2:n.188-266_188-265insTGGGGT | ||
| NM_001352301.2:c.140-266_140-265insTGGGGT | NP_001339230.1:n.140-266_140-265insTGGGGT | |
| NM_001352302.2:c.-59-266_-59-265insTGGGGT | NP_001339231.1:n.-59-266_-59-265insTGGGGT | |
| NM_001352303.2:c.134-266_134-265insTGGGGT | NP_001339232.1:n.134-266_134-265insTGGGGT |