UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs1362496084
gnomAD v2:
16-68863524-T-TCTTCATTGTACTTCAACCTTTTTTCTC
gnomAD v4:
16-68829621-T-TCTTCATTGTACTTCAACCTTTTTTCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829623_68829649dup , CM000678.2:g.68829623_68829649dup | GRCh38 |
| NC_000016.9:g.68863526_68863552dup , CM000678.1:g.68863526_68863552dup | GRCh37 |
| NC_000016.8:g.67421027_67421053dup | NCBI36 |
| NG_008021.1:g.97332_97358dup , LRG_301:g.97332_97358dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2296-31_2296-5dup MANE Select | ENSP00000261769.4:n.2296-31_2296-5dup | |
| ENST00000261769.9:c.2296-31_2296-5dup | ENSP00000261769.4:n.2296-31_2296-5dup | |
| ENST00000422392.6:c.2113-31_2113-5dup | ENSP00000414946.2:n.2113-31_2113-5dup | |
| ENST00000562118.1:n.514-31_514-5dup | ||
| ENST00000562836.5:n.2367-31_2367-5dup | ||
| ENST00000566510.5:c.*962-31_*962-5dup | ENSP00000458139.1:n.*962-31_*962-5dup | |
| ENST00000566612.5:c.*536-31_*536-5dup | ENSP00000454782.1:n.*536-31_*536-5dup | |
| ENST00000611625.4:c.2359-31_2359-5dup | ENSP00000481063.1:n.2359-31_2359-5dup | |
| ENST00000612417.4:c.1853+3069_1853+3095dup | ENSP00000478360.1:n.1853+3069_1853+3095du... | |
| ENST00000621016.4:c.1866-4580_1866-4554dup | ENSP00000480664.1:n.1866-4580_1866-4554du... | |
| NM_004360.3:c.2296-31_2296-5dup , LRG_301t1:c.2296-31_2296-5dup | NP_004351.1:n.2296-31_2296-5dup | |
| XM_011523488.1:c.1561-31_1561-5dup | XP_011521790.1:n.1561-31_1561-5dup | |
| XM_011523489.1:c.1561-31_1561-5dup | XP_011521791.1:n.1561-31_1561-5dup | |
| NM_001317184.1:c.2113-31_2113-5dup | NP_001304113.1:n.2113-31_2113-5dup | |
| NM_001317185.1:c.748-31_748-5dup | NP_001304114.1:n.748-31_748-5dup | |
| NM_001317186.1:c.331-31_331-5dup | NP_001304115.1:n.331-31_331-5dup | |
| NM_004360.4:c.2296-31_2296-5dup | NP_004351.1:n.2296-31_2296-5dup | |
| NM_004360.5:c.2296-31_2296-5dup MANE Select | NP_004351.1:n.2296-31_2296-5dup | |
| NM_001317184.2:c.2113-31_2113-5dup | NP_001304113.1:n.2113-31_2113-5dup | |
| NM_001317185.2:c.748-31_748-5dup | NP_001304114.1:n.748-31_748-5dup | |
| NM_001317186.2:c.331-31_331-5dup | NP_001304115.1:n.331-31_331-5dup |