Linked Data
dbSNP Id:
rs1566019470
gnomAD v2:
12-129186467-C-CA
gnomAD v3:
12-128701922-C-CA
gnomAD v4:
12-128701922-C-CA
MyVariant Identifiers:
chr12:g.129186467_129186468insA (hg19)
chr12:g.128701922_128701923insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128701923dup , CM000674.2:g.128701923dup | GRCh38 |
| NC_000012.11:g.129186468dup , CM000674.1:g.129186468dup | GRCh37 |
| NC_000012.10:g.127752421dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435159.3:c.2122-3167dup MANE Select | ENSP00000410852.2:n.2122-3167dup | |
| ENST00000435159.2:c.2122-3167dup | ENSP00000410852.2:n.2122-3167dup | |
| NM_001136103.2:c.2122-3167dup | NP_001129575.2:n.2122-3167dup | |
| XM_011538998.1:c.2062-3167dup | XP_011537300.1:n.2062-3167dup | |
| XM_011538998.2:c.2062-3167dup | XP_011537300.1:n.2062-3167dup | |
| XR_001748922.1:n.2355-2729dup | ||
| NM_001136103.3:c.2122-3167dup MANE Select | NP_001129575.2:n.2122-3167dup | |
| NM_001387058.1:c.2062-3167dup | NP_001373987.1:n.2062-3167dup |