Linked Data
dbSNP Id:
rs893492549
gnomAD v3:
22-32474953-T-TCCCCGTCGCCGC
gnomAD v4:
22-32474953-T-TCCCCGTCGCCGC
MyVariant Identifiers:
chr22:g.32870940_32870941insCCCCGTCGCCGC (hg19)
chr22:g.32474953_32474954insCCCCGTCGCCGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474954_32474965dup , CM000684.2:g.32474954_32474965dup | GRCh38 |
| NC_000022.10:g.32870941_32870952dup , CM000684.1:g.32870941_32870952dup | GRCh37 |
| NC_000022.9:g.31200941_31200952dup | NCBI36 |
| NG_016001.1:g.5235_5246dup | |
| NG_016001.2:g.5235_5246dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.-49_-38dup MANE Select | ENSP00000266087.7:n.-49_-38dup | |
| ENST00000266087.11:c.-49_-38dup | ENSP00000266087.7:n.-49_-38dup | |
| ENST00000420700.5:c.-49_-38dup | ENSP00000406155.1:n.-49_-38dup | |
| ENST00000425028.5:c.-49_-38dup | ENSP00000395823.1:n.-49_-38dup | |
| NM_012179.3:c.-49_-38dup | NP_036311.3:n.-49_-38dup | |
| XM_011530106.1:c.-222_-211dup | XP_011528408.1:n.-222_-211dup | |
| XM_024452207.1:c.-239_-228dup | XP_024307975.1:n.-239_-228dup | |
| NM_012179.4:c.-49_-38dup MANE Select | NP_036311.3:n.-49_-38dup |