Linked Data
dbSNP Id:
rs1246556803
gnomAD v3:
22-36281794-A-AGATC
gnomAD v4:
22-36281794-A-AGATC
MyVariant Identifiers:
chr22:g.36677840_36677841insGATC (hg19)
chr22:g.36281794_36281795insGATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36281796_36281799dup , CM000684.2:g.36281796_36281799dup | GRCh38 |
| NC_000022.10:g.36677842_36677845dup , CM000684.1:g.36677842_36677845dup | GRCh37 |
| NC_000022.9:g.35007788_35007791dup | NCBI36 |
| NG_011884.2:g.111221_111224dup , LRG_567:g.111221_111224dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685708.1:n.3186_3189dup | ||
| ENST00000685801.1:c.*870_*873dup | ENSP00000510688.1:n.*870_*873dup | |
| ENST00000690244.1:n.2089_2092dup | ||
| ENST00000691109.1:n.7048_7051dup | ||
| ENST00000216181.11:c.*870_*873dup MANE Select | ENSP00000216181.6:n.*870_*873dup | |
| ENST00000216181.9:c.*870_*873dup | ENSP00000216181.5:n.*870_*873dup | |
| NM_002473.5:c.*870_*873dup , LRG_567t1:c.*870_*873dup | NP_002464.1:n.*870_*873dup | |
| XM_011530197.1:c.*870_*873dup | XP_011528499.1:n.*870_*873dup | |
| XM_011530197.2:c.*870_*873dup | XP_011528499.1:n.*870_*873dup | |
| XM_017028803.1:c.*870_*873dup | XP_016884292.1:n.*870_*873dup | |
| XM_017028804.1:c.*870_*873dup | XP_016884293.1:n.*870_*873dup | |
| XM_017028805.1:c.*870_*873dup | XP_016884294.1:n.*870_*873dup | |
| XM_017028806.1:c.*870_*873dup | XP_016884295.1:n.*870_*873dup | |
| NM_002473.6:c.*870_*873dup MANE Select | NP_002464.1:n.*870_*873dup |