Linked Data
dbSNP Id:
rs772507875
ExAC:
16:4812356 C / CCACCAGT
gnomAD v2:
16-4812356-C-CCACCAGT
MyVariant Identifiers:
chr16:g.4812356_4812357insCACCAGT (hg19)
chr16:g.4762355_4762356insCACCAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4762359_4762365dup , CM000678.2:g.4762359_4762365dup | GRCh38 |
| NC_000016.9:g.4812360_4812366dup , CM000678.1:g.4812360_4812366dup | GRCh37 |
| NC_000016.8:g.4752361_4752367dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219478.11:c.599-27_599-21dup MANE Select | ENSP00000219478.5:n.599-27_599-21dup | |
| ENST00000219478.10:c.599-27_599-21dup | ENSP00000219478.5:n.599-27_599-21dup | |
| ENST00000545009.1:c.599-27_599-21dup | ENSP00000445714.1:n.599-27_599-21dup | |
| ENST00000589422.1:c.*127-27_*127-21dup | ENSP00000466375.1:n.*127-27_*127-21dup | |
| NM_001303450.1:c.599-27_599-21dup | NP_001290379.1:n.599-27_599-21dup | |
| NM_021646.2:c.599-27_599-21dup | NP_067678.1:n.599-27_599-21dup | |
| XM_005255243.2:c.248-27_248-21dup | XP_005255300.1:n.248-27_248-21dup | |
| XM_011522453.1:c.599-27_599-21dup | XP_011520755.1:n.599-27_599-21dup | |
| XM_011522454.1:c.-26-27_-26-21dup | XP_011520756.1:n.-26-27_-26-21dup | |
| NM_021646.3:c.599-27_599-21dup | NP_067678.1:n.599-27_599-21dup | |
| XM_005255243.4:c.248-27_248-21dup | XP_005255300.1:n.248-27_248-21dup | |
| XM_011522453.2:c.599-27_599-21dup | XP_011520755.1:n.599-27_599-21dup | |
| XM_011522454.3:c.-26-27_-26-21dup | XP_011520756.1:n.-26-27_-26-21dup | |
| XM_017023121.2:c.-26-27_-26-21dup | XP_016878610.1:n.-26-27_-26-21dup | |
| NM_001303450.2:c.599-27_599-21dup | NP_001290379.1:n.599-27_599-21dup | |
| NM_021646.4:c.599-27_599-21dup MANE Select | NP_067678.1:n.599-27_599-21dup |