Linked Data
dbSNP Id:
rs1476555999
gnomAD v2:
12-121435162-G-GC
gnomAD v3:
12-120997359-G-GC
gnomAD v4:
12-120997359-G-GC
MyVariant Identifiers:
chr12:g.121435162_121435163insC (hg19)
chr12:g.120997359_120997360insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997364dup , CM000674.2:g.120997364dup | GRCh38 |
| NC_000012.11:g.121435167dup , CM000674.1:g.121435167dup | GRCh37 |
| NC_000012.10:g.119919550dup | NCBI36 |
| NG_011731.2:g.23619dup , LRG_522:g.23619dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*57-110dup | ENSP00000453965.2:n.*57-110dup | |
| ENST00000257555.11:c.1310-110dup MANE Select | ENSP00000257555.5:n.1310-110dup | |
| ENST00000257555.10:c.1310-110dup | ENSP00000257555.4:n.1310-110dup | |
| ENST00000400024.6:c.1310-110dup | ENSP00000476181.1:n.1310-110dup | |
| ENST00000402929.5:n.2066dup | ||
| ENST00000535955.5:n.43-127dup | ||
| ENST00000538626.2:n.191-127dup | ||
| ENST00000538646.5:c.*286-110dup | ENSP00000443964.1:n.*286-110dup | |
| ENST00000540108.1:c.*750-110dup | ENSP00000445445.1:n.*750-110dup | |
| ENST00000541395.5:c.1310-110dup | ENSP00000443112.1:n.1310-110dup | |
| ENST00000541924.5:c.*324-110dup | ENSP00000440361.1:n.*324-110dup | |
| ENST00000543255.1:n.354-110dup | ||
| ENST00000543427.5:c.773-110dup | ENSP00000439721.2:n.773-110dup | |
| ENST00000544413.2:c.1310-110dup | ENSP00000438804.1:n.1310-110dup | |
| ENST00000544574.5:c.*73-110dup | ENSP00000438565.1:n.*73-110dup | |
| ENST00000560968.5:c.1127-110dup | ||
| ENST00000615446.4:c.98-110dup | ENSP00000483994.1:n.98-110dup | |
| ENST00000617366.4:c.587-270dup | ENSP00000481967.1:n.587-270dup | |
| NM_000545.5:c.1310-110dup , LRG_522t1:c.1310-110dup | NP_000536.5:n.1310-110dup | |
| NM_000545.6:c.1310-110dup | NP_000536.5:n.1310-110dup | |
| NM_001306179.1:c.1310-110dup | NP_001293108.1:n.1310-110dup | |
| XM_005253931.2:c.1310-110dup | XP_005253988.1:n.1310-110dup | |
| XM_024449168.1:c.1310-110dup | XP_024304936.1:n.1310-110dup | |
| NM_000545.8:c.1310-110dup MANE Select | NP_000536.6:n.1310-110dup | |
| NM_001306179.2:c.1310-110dup | NP_001293108.2:n.1310-110dup |