Linked Data
dbSNP Id:
rs1433729690
gnomAD v2:
22-32500682-C-CTTCCT
gnomAD v3:
22-32104695-C-CTTCCT
gnomAD v4:
22-32104695-C-CTTCCT
MyVariant Identifiers:
chr22:g.32500682_32500683insTTCCT (hg19)
chr22:g.32104695_32104696insTTCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32104697_32104701dup , CM000684.2:g.32104697_32104701dup | GRCh38 |
| NC_000022.10:g.32500684_32500688dup , CM000684.1:g.32500684_32500688dup | GRCh37 |
| NC_000022.9:g.30830684_30830688dup | NCBI36 |
| NG_017045.1:g.66666_66670dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1666-89_1666-85dup MANE Select | ENSP00000266088.4:n.1666-89_1666-85dup | |
| ENST00000266088.8:c.1666-89_1666-85dup | ENSP00000266088.4:n.1666-89_1666-85dup | |
| ENST00000543737.2:c.1285-89_1285-85dup | ENSP00000444898.1:n.1285-89_1285-85dup | |
| NM_000343.3:c.1666-89_1666-85dup | NP_000334.1:n.1666-89_1666-85dup | |
| NM_001256314.1:c.1285-89_1285-85dup | NP_001243243.1:n.1285-89_1285-85dup | |
| XR_938173.1:n.591+2138_591+2142dup | ||
| XR_938174.1:n.486+15155_486+15159dup | ||
| NM_000343.4:c.1666-89_1666-85dup MANE Select | NP_000334.1:n.1666-89_1666-85dup | |
| NM_001256314.2:c.1285-89_1285-85dup | NP_001243243.1:n.1285-89_1285-85dup |