Linked Data
gnomAD v2:
22-19906808-T-TTCCG
gnomAD v3:
22-19919285-T-TTCCG
gnomAD v4:
22-19919285-T-TTCCG
MyVariant Identifiers:
chr22:g.19906808_19906809insTCCG (hg19)
chr22:g.19919285_19919286insTCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19919285_19919286insTCCG , CM000684.2:g.19919285_19919286insTCCG | GRCh38 |
| NC_000022.10:g.19906808_19906809insTCCG , CM000684.1:g.19906808_19906809insTCCG | GRCh37 |
| NC_000022.9:g.18286808_18286809insTCCG | NCBI36 |
| NG_011835.1:g.27551_27552insCGGA , LRG_417:g.27551_27552insCGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.229+257_229+258insCGGA MANE Select | ENSP00000383365.1:n.229+257_229+258insCGGA | |
| ENST00000334363.14:c.229+257_229+258insCGGA | ENSP00000334451.9:n.229+257_229+258insCGGA | |
| ENST00000400518.5:c.139+257_139+258insCGGA | ENSP00000383362.1:n.139+257_139+258insCGGA | |
| ENST00000400519.6:c.226+257_226+258insCGGA | ENSP00000383363.1:n.226+257_226+258insCGGA | |
| ENST00000400521.6:c.229+257_229+258insCGGA | ENSP00000383365.1:n.229+257_229+258insCGGA | |
| ENST00000400525.6:c.160+257_160+258insCGGA | ENSP00000383369.3:n.160+257_160+258insCGGA | |
| ENST00000474308.5:c.173-282_173-281insCGGA | ENSP00000485665.1:n.173-282_173-281insCGGA | |
| ENST00000491939.6:c.133+257_133+258insCGGA | ENSP00000485543.1:n.133+257_133+258insCGGA | |
| ENST00000496729.2:n.234+257_234+258insCGGA | ||
| ENST00000542719.6:c.-60+257_-60+258insCGGA | ENSP00000485128.2:n.-60+257_-60+258insCGGA | |
| NM_001282512.1:c.229+257_229+258insCGGA | NP_001269441.1:n.229+257_229+258insCGGA | |
| NM_006440.4:c.229+257_229+258insCGGA | NP_006431.2:n.229+257_229+258insCGGA | |
| NM_001282512.2:c.229+257_229+258insCGGA | NP_001269441.1:n.229+257_229+258insCGGA | |
| NM_001352300.1:c.226+257_226+258insCGGA | NP_001339229.1:n.226+257_226+258insCGGA | |
| NM_001352301.1:c.139+257_139+258insCGGA | NP_001339230.1:n.139+257_139+258insCGGA | |
| NM_001352302.1:c.-60+257_-60+258insCGGA | NP_001339231.1:n.-60+257_-60+258insCGGA | |
| NM_001352303.1:c.133+257_133+258insCGGA | NP_001339232.1:n.133+257_133+258insCGGA | |
| NR_147957.1:n.362-282_362-281insCGGA | ||
| NM_006440.5:c.229+257_229+258insCGGA MANE Select | NP_006431.2:n.229+257_229+258insCGGA | |
| NM_001282512.3:c.229+257_229+258insCGGA | NP_001269441.1:n.229+257_229+258insCGGA | |
| NM_001352300.2:c.226+257_226+258insCGGA | NP_001339229.1:n.226+257_226+258insCGGA | |
| NR_147957.2:n.188-282_188-281insCGGA | ||
| NM_001352301.2:c.139+257_139+258insCGGA | NP_001339230.1:n.139+257_139+258insCGGA | |
| NM_001352302.2:c.-60+257_-60+258insCGGA | NP_001339231.1:n.-60+257_-60+258insCGGA | |
| NM_001352303.2:c.133+257_133+258insCGGA | NP_001339232.1:n.133+257_133+258insCGGA |