Linked Data
dbSNP Id:
rs1340723802
gnomAD v3:
22-32475163-G-GGGAGTGC
gnomAD v4:
22-32475163-G-GGGAGTGC
MyVariant Identifiers:
chr22:g.32871150_32871151insGGAGTGC (hg19)
chr22:g.32475163_32475164insGGAGTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475164_32475170dup , CM000684.2:g.32475164_32475170dup | GRCh38 |
| NC_000022.10:g.32871151_32871157dup , CM000684.1:g.32871151_32871157dup | GRCh37 |
| NC_000022.9:g.31201151_31201157dup | NCBI36 |
| NG_016001.1:g.5445_5451dup | |
| NG_016001.2:g.5445_5451dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.122+40_122+46dup MANE Select | ENSP00000266087.7:n.122+40_122+46dup | |
| ENST00000266087.11:c.122+40_122+46dup | ENSP00000266087.7:n.122+40_122+46dup | |
| ENST00000420700.5:c.122+40_122+46dup | ENSP00000406155.1:n.122+40_122+46dup | |
| ENST00000425028.5:c.122+40_122+46dup | ENSP00000395823.1:n.122+40_122+46dup | |
| ENST00000492535.1:n.110+40_110+46dup | ||
| NM_012179.3:c.122+40_122+46dup | NP_036311.3:n.122+40_122+46dup | |
| XM_011530106.1:c.-52+40_-52+46dup | XP_011528408.1:n.-52+40_-52+46dup | |
| XM_024452207.1:c.-69+40_-69+46dup | XP_024307975.1:n.-69+40_-69+46dup | |
| NM_012179.4:c.122+40_122+46dup MANE Select | NP_036311.3:n.122+40_122+46dup |