Linked Data
dbSNP Id:
rs1412466403
gnomAD v2:
7-24738198-A-ATAAC
gnomAD v3:
7-24698579-A-ATAAC
gnomAD v4:
7-24698579-A-ATAAC
MyVariant Identifiers:
chr7:g.24738198_24738199insTAAC (hg19)
chr7:g.24698579_24698580insTAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24698580_24698583dup , CM000669.2:g.24698580_24698583dup | GRCh38 |
| NC_000007.13:g.24738199_24738202dup , CM000669.1:g.24738199_24738202dup | GRCh37 |
| NC_000007.12:g.24704724_24704727dup | NCBI36 |
| NG_011593.1:g.64438_64441dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.*443_*446dup | ENSP00000339587.3:n.*443_*446dup | |
| ENST00000409970.6:c.*443_*446dup | ENSP00000387119.1:n.*443_*446dup | |
| ENST00000419307.6:c.*443_*446dup | ENSP00000401332.1:n.*443_*446dup | |
| ENST00000645220.1:c.*443_*446dup MANE Select | ENSP00000494186.1:n.*443_*446dup | |
| ENST00000342947.7:c.*443_*446dup | ENSP00000339587.3:n.*443_*446dup | |
| ENST00000409970.5:c.*443_*446dup | ENSP00000387119.1:n.*443_*446dup | |
| ENST00000419307.5:c.*443_*446dup | ENSP00000401332.1:n.*443_*446dup | |
| ENST00000479636.1:n.3955_3958dup | ||
| NM_001127453.1:c.*443_*446dup | NP_001120925.1:n.*443_*446dup | |
| NM_001127454.1:c.*443_*446dup | NP_001120926.1:n.*443_*446dup | |
| NM_004403.2:c.*443_*446dup | NP_004394.1:n.*443_*446dup | |
| XM_017011802.1:c.*443_*446dup | XP_016867291.1:n.*443_*446dup | |
| XM_024446670.1:c.*443_*446dup | XP_024302438.1:n.*443_*446dup | |
| NM_004403.3:c.*443_*446dup | NP_004394.1:n.*443_*446dup | |
| NM_001127453.2:c.*443_*446dup MANE Select | NP_001120925.1:n.*443_*446dup | |
| NM_001127454.2:c.*443_*446dup | NP_001120926.1:n.*443_*446dup |