Linked Data
dbSNP Id:
rs1255700676
gnomAD v2:
22-32870879-C-CGGTAGTCGCCAGTCCGG
gnomAD v3:
22-32474892-C-CGGTAGTCGCCAGTCCGG
gnomAD v4:
22-32474892-C-CGGTAGTCGCCAGTCCGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474896_32474912dup , CM000684.2:g.32474896_32474912dup | GRCh38 |
| NC_000022.10:g.32870883_32870899dup , CM000684.1:g.32870883_32870899dup | GRCh37 |
| NC_000022.9:g.31200883_31200899dup | NCBI36 |
| NG_016001.1:g.5177_5193dup | |
| NG_016001.2:g.5177_5193dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.-107_-91dup MANE Select | ENSP00000266087.7:n.-107_-91dup | |
| ENST00000266087.11:c.-107_-91dup | ENSP00000266087.7:n.-107_-91dup | |
| ENST00000420700.5:c.-107_-91dup | ENSP00000406155.1:n.-107_-91dup | |
| ENST00000425028.5:c.-107_-91dup | ENSP00000395823.1:n.-107_-91dup | |
| NM_012179.3:c.-107_-91dup | NP_036311.3:n.-107_-91dup | |
| XM_011530106.1:c.-280_-264dup | XP_011528408.1:n.-280_-264dup | |
| XM_024452207.1:c.-297_-281dup | XP_024307975.1:n.-297_-281dup | |
| NM_012179.4:c.-107_-91dup MANE Select | NP_036311.3:n.-107_-91dup |