Linked Data
dbSNP Id:
rs879700722
gnomAD v2:
22-31002875-A-AGTACC
gnomAD v3:
22-30606888-A-AGTACC
gnomAD v4:
22-30606888-A-AGTACC
MyVariant Identifiers:
chr22:g.31002875_31002876insGTACC (hg19)
chr22:g.30606888_30606889insGTACC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30606890_30606894dup , CM000684.2:g.30606890_30606894dup | GRCh38 |
| NC_000022.10:g.31002877_31002881dup , CM000684.1:g.31002877_31002881dup | GRCh37 |
| NC_000022.9:g.29332877_29332881dup | NCBI36 |
| NG_007263.1:g.4717_4721dup , LRG_116:g.4717_4721dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215838.7:c.-442_-438dup (TCN2) | ENSP00000215838.3:n.-442_-438dup | |
| ENST00000402281.5:c.-802_-798dup (PES1) | ENSP00000384366.1:n.-802_-798dup | |
| ENST00000405677.5:c.-849_-845dup (PES1) | ENSP00000385654.1:n.-849_-845dup | |
| ENST00000492986.1:n.166_170dup (PES1) | ||
| NM_001282327.1:c.-802_-798dup (PES1) | NP_001269256.1:n.-802_-798dup | |
| NM_001282328.1:c.-849_-845dup (PES1) | NP_001269257.1:n.-849_-845dup |