Linked Data
dbSNP Id:
rs140233512
gnomAD v3:
12-57750153-C-CAATAAATAAATAAATA
gnomAD v4:
12-57750153-C-CAATAAATAAATAAATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750184_57750199dup , CM000674.2:g.57750184_57750199dup | GRCh38 |
| NC_000012.11:g.58143967_58143982dup , CM000674.1:g.58143967_58143982dup | GRCh37 |
| NC_000012.10:g.56430234_56430249dup | NCBI36 |
| NG_007484.2:g.7213_7228dup , LRG_490:g.7213_7228dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.632+487_632+502dup (CDK4) MANE Select | ENSP00000257904.5:n.632+487_632+502dup | |
| ENST00000257910.8:c.*2894_*2909dup (TSPAN31) MANE Select | ENSP00000257910.3:n.*2894_*2909dup | |
| ENST00000257904.10:c.632+487_632+502dup (CDK4) | ENSP00000257904.5:n.632+487_632+502dup | |
| ENST00000312990.10:c.280+487_280+502dup (CDK4) | ENSP00000316889.6:n.280+487_280+502dup | |
| ENST00000546489.5:c.410+487_410+502dup (CDK4) | ENSP00000447779.1:n.410+487_410+502dup | |
| ENST00000547281.5:c.410+487_410+502dup (CDK4) | ENSP00000447274.1:n.410+487_410+502dup | |
| ENST00000547992.5:c.*2894_*2909dup (TSPAN31) | ENSP00000448209.1:n.*2894_*2909dup | |
| ENST00000549606.5:c.-157-665_-157-650dup (CDK4) | ENSP00000447005.1:n.-157-665_-157-650dup | |
| ENST00000550419.5:c.*38+273_*38+288dup (CDK4) | ENSP00000448098.1:n.*38+273_*38+288dup | |
| ENST00000551888.5:n.458+487_458+502dup (CDK4) | ||
| ENST00000553237.5:c.*271+487_*271+502dup (CDK4) | ENSP00000448885.1:n.*271+487_*271+502dup | |
| NM_000075.3:c.632+487_632+502dup (CDK4) | NP_000066.1:n.632+487_632+502dup | |
| NM_000075.4:c.632+487_632+502dup (CDK4) MANE Select | NP_000066.1:n.632+487_632+502dup | |
| NM_005981.5:c.*2894_*2909dup (TSPAN31) MANE Select | NP_005972.1:n.*2894_*2909dup | |
| NM_001330168.2:c.*2894_*2909dup (TSPAN31) | NP_001317097.1:n.*2894_*2909dup | |
| NM_001330169.2:c.*2894_*2909dup (TSPAN31) | NP_001317098.1:n.*2894_*2909dup |