Linked Data
dbSNP Id:
rs1371241051
gnomAD v2:
22-43559040-A-ATCACGCTTGTGATGTGGTGGCCG
gnomAD v4:
22-43163034-A-ATCACGCTTGTGATGTGGTGGCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43163043_43163065dup , CM000684.2:g.43163043_43163065dup | GRCh38 |
| NC_000022.10:g.43559049_43559071dup , CM000684.1:g.43559049_43559071dup | GRCh37 |
| NC_000022.9:g.41888993_41889015dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.*52_*74dup MANE Select | ENSP00000338004.3:n.*52_*74dup | |
| ENST00000329563.8:c.*52_*74dup | ENSP00000328973.4:n.*52_*74dup | |
| ENST00000337554.7:c.*52_*74dup | ENSP00000338004.3:n.*52_*74dup | |
| ENST00000396265.4:c.*52_*74dup | ENSP00000379563.4:n.*52_*74dup | |
| ENST00000583777.5:c.*52_*74dup | ENSP00000463495.1:n.*52_*74dup | |
| NM_000714.5:c.*52_*74dup | NP_000705.2:n.*52_*74dup | |
| NM_001256530.1:c.*52_*74dup | NP_001243459.1:n.*52_*74dup | |
| NM_001256531.1:c.*52_*74dup | NP_001243460.1:n.*52_*74dup | |
| NR_046308.1:n.471_493dup | ||
| NM_000714.6:c.*52_*74dup MANE Select | NP_000705.2:n.*52_*74dup | |
| NR_046308.2:n.426_448dup |