Linked Data
ClinVar Variation Id:
126618
dbSNP Id:
rs368593832
ExAC:
16:23646141 T / TTCA
gnomAD v2:
16-23646141-T-TTCA
gnomAD v3:
16-23634820-T-TTCA
gnomAD v4:
16-23634820-T-TTCA
MyVariant Identifiers:
chr16:g.23646142_23646144dupTCA (hg19)
chr16:g.23646147_23646148insTCA (hg19)
chr16:g.23646144_23646145insTCA (hg19)
chr16:g.23646141_23646142insTCA (hg19)
chr16:g.23634821_23634823dupTCA (hg38)
chr16:g.23634823_23634824insTCA (hg38)
chr16:g.23634820_23634821insTCA (hg38)
PubMed:
PMID:23448497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23634842_23634844dup , CM000678.2:g.23634842_23634844dup | GRCh38 |
| NC_000016.9:g.23646163_23646165dup , CM000678.1:g.23646163_23646165dup | GRCh37 |
| NC_000016.8:g.23553664_23553666dup | NCBI36 |
| NG_007406.1:g.11535_11537dup , LRG_308:g.11535_11537dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.1690+39_1690+41dup | ENSP00000460666.3:n.1690+39_1690+41dup | |
| ENST00000565038.2:c.211+3027_211+3029dup | ENSP00000459882.2:n.211+3027_211+3029dup | |
| ENST00000566069.6:c.1684+39_1684+41dup | ENSP00000459237.2:n.1684+39_1684+41dup | |
| ENST00000697377.2:c.1690+39_1690+41dup | ENSP00000513286.2:n.1690+39_1690+41dup | |
| ENST00000697379.2:c.1690+39_1690+41dup | ENSP00000513287.2:n.1690+39_1690+41dup | |
| ENST00000561514.2:c.799+39_799+41dup | ENSP00000460666.2:n.799+39_799+41dup | |
| ENST00000697374.1:c.799+39_799+41dup | ENSP00000513284.1:n.799+39_799+41dup | |
| ENST00000697375.1:n.3031+39_3031+41dup | ||
| ENST00000697376.1:c.799+39_799+41dup | ENSP00000513285.1:n.799+39_799+41dup | |
| ENST00000697377.1:c.799+39_799+41dup | ENSP00000513286.1:n.799+39_799+41dup | |
| ENST00000697378.1:n.2204+39_2204+41dup | ||
| ENST00000697379.1:c.799+39_799+41dup | ENSP00000513287.1:n.799+39_799+41dup | |
| ENST00000697382.1:c.799+39_799+41dup | ENSP00000513288.1:n.799+39_799+41dup | |
| ENST00000697383.1:c.49-5548_49-5546dup | ENSP00000513289.1:n.49-5548_49-5546dup | |
| ENST00000697384.1:n.1838+39_1838+41dup | ||
| ENST00000261584.9:c.1684+39_1684+41dup MANE Select | ENSP00000261584.4:n.1684+39_1684+41dup | |
| ENST00000261584.8:c.1684+39_1684+41dup | ENSP00000261584.4:n.1684+39_1684+41dup | |
| ENST00000565038.1:c.86+3027_86+3029dup | ||
| ENST00000568219.5:c.799+39_799+41dup | ENSP00000454703.2:n.799+39_799+41dup | |
| NM_024675.3:c.1684+39_1684+41dup , LRG_308t1:c.1684+39_1684+41dup | NP_078951.2:n.1684+39_1684+41dup | |
| XM_011545946.1:c.1690+39_1690+41dup | XP_011544248.1:n.1690+39_1690+41dup | |
| XM_011545947.1:c.1690+39_1690+41dup | XP_011544249.1:n.1690+39_1690+41dup | |
| XM_011545948.1:c.799+39_799+41dup | XP_011544250.1:n.799+39_799+41dup | |
| XR_950851.1:n.2480+39_2480+41dup | ||
| XM_011545946.2:c.1690+39_1690+41dup | XP_011544248.1:n.1690+39_1690+41dup | |
| XM_011545947.2:c.1690+39_1690+41dup | XP_011544249.1:n.1690+39_1690+41dup | |
| XM_011545948.2:c.799+39_799+41dup | XP_011544250.1:n.799+39_799+41dup | |
| XM_017023671.1:c.1690+39_1690+41dup | XP_016879160.1:n.1690+39_1690+41dup | |
| XM_017023672.2:c.1684+39_1684+41dup | XP_016879161.1:n.1684+39_1684+41dup | |
| XM_017023673.2:c.1684+39_1684+41dup | XP_016879162.1:n.1684+39_1684+41dup | |
| NM_024675.4:c.1684+39_1684+41dup MANE Select | NP_078951.2:n.1684+39_1684+41dup |