Linked Data
dbSNP Id:
rs58028904
gnomAD v2:
6-16396510-T-TA
gnomAD v3:
6-16396279-T-TA
gnomAD v4:
6-16396279-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16396281dup , CM000668.2:g.16396281dup | GRCh38 |
| NC_000006.11:g.16396512dup , CM000668.1:g.16396512dup | GRCh37 |
| NC_000006.10:g.16504491dup | NCBI36 |
| NG_011571.1:g.370211dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436367.6:c.-160-67810dup MANE Select | ENSP00000416360.1:n.-160-67810dup | |
| ENST00000244769.8:c.-160-67810dup | ENSP00000244769.3:n.-160-67810dup | |
| ENST00000436367.5:c.-160-67810dup | ENSP00000416360.1:n.-160-67810dup | |
| NM_000332.3:c.-160-67810dup | NP_000323.2:n.-160-67810dup | |
| NM_001128164.1:c.-160-67810dup | NP_001121636.1:n.-160-67810dup | |
| NM_001357857.1:c.-189-67810dup | NP_001344786.1:n.-189-67810dup | |
| NM_001357857.2:c.-189-67810dup | NP_001344786.1:n.-189-67810dup | |
| NM_001128164.2:c.-160-67810dup MANE Select | NP_001121636.1:n.-160-67810dup | |
| NM_000332.4:c.-160-67810dup | NP_000323.2:n.-160-67810dup |