Linked Data
dbSNP Id:
rs772095473
ExAC:
16:4390912 A / AC
gnomAD v2:
16-4390912-A-AC
gnomAD v4:
16-4340911-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4340913dup , CM000678.2:g.4340913dup | GRCh38 |
| NC_000016.9:g.4390914dup , CM000678.1:g.4390914dup | GRCh37 |
| NC_000016.8:g.4330915dup | NCBI36 |
| NG_016391.1:g.13690dup | |
| NG_016391.2:g.31153dup | |
| NG_054893.1:g.15461dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318059.8:c.291+8dup (PAM16) MANE Select | ENSP00000315693.3:n.291+8dup | |
| ENST00000318059.7:c.291+8dup (PAM16) | ENSP00000315693.3:n.291+8dup | |
| ENST00000571178.1:c.265+8dup (PAM16) | ||
| ENST00000571941.5:c.351+8dup (PAM16) | ENSP00000460708.1:n.351+8dup | |
| ENST00000571986.5:c.*184+8dup (PAM16) | ENSP00000459802.1:n.*184+8dup | |
| ENST00000572467.5:c.3060+8dup (CORO7-PAM16) | ENSP00000460885.1:n.3060+8dup | |
| ENST00000573236.5:n.547+8dup (PAM16) | ||
| ENST00000573450.5:n.424+8dup (PAM16) | ||
| ENST00000573553.5:c.351+8dup (PAM16) | ENSP00000459955.1:n.351+8dup | |
| ENST00000573614.5:n.495+8dup (PAM16) | ||
| ENST00000575334.5:c.*1586+8dup (CORO7-PAM16) | ENSP00000458607.1:n.*1586+8dup | |
| ENST00000575636.5:c.*184+8dup (PAM16) | ENSP00000458914.1:n.*184+8dup | |
| ENST00000575848.5:c.327+8dup (PAM16) | ENSP00000458412.1:n.327+8dup | |
| ENST00000576217.1:c.291+8dup (PAM16) | ENSP00000461047.1:n.291+8dup | |
| ENST00000577031.5:c.291+8dup (PAM16) | ENSP00000459113.1:n.291+8dup | |
| NM_001201479.1:c.3060+8dup (CORO7-PAM16) | NP_001188408.1:n.3060+8dup | |
| NM_016069.9:c.291+8dup (PAM16) | NP_057153.8:n.291+8dup | |
| NM_016069.10:c.291+8dup (PAM16) | NP_057153.8:n.291+8dup | |
| NM_016069.11:c.291+8dup (PAM16) MANE Select | NP_057153.8:n.291+8dup | |
| NM_001201479.2:c.3060+8dup (CORO7-PAM16) | NP_001188408.1:n.3060+8dup |