Linked Data
ClinVar Variation Id:
405242
ClinVar RCV Id:
RCV000458504
dbSNP Id:
rs1554109062
MyVariant Identifiers:
chr6:g.7585184_7585189dupGAAAAA (hg19)
chr6:g.7584951_7584956dupGAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7584951_7584956dup , CM000668.2:g.7584951_7584956dup | GRCh38 |
| NC_000006.11:g.7585184_7585189dup , CM000668.1:g.7585184_7585189dup | GRCh37 |
| NC_000006.10:g.7530183_7530188dup | NCBI36 |
| NG_008803.1:g.48315_48320dup , LRG_423:g.48315_48320dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6360_6365dup | ENSP00000518230.1:p.Lys2121_Asn2122insLysLys | |
| ENST00000379802.8:c.7689_7694dup MANE Select | ENSP00000369129.3:p.Lys2564_Asn2565insLysLys | |
| ENST00000379802.7:c.7689_7694dup | ENSP00000369129.3:p.Lys2564_Asn2565insLysLys | |
| ENST00000418664.2:c.5892_5897dup | ENSP00000396591.2:p.Lys1965_Asn1966insLysLys | |
| NM_001008844.1:c.5892_5897dup | NP_001008844.1:p.Lys1965_Asn1966insLysLys | |
| NM_004415.2:c.7689_7694dup , LRG_423t1:c.7689_7694dup | NP_004406.2:p.Lys2564_Asn2565insLysLys | |
| XM_011514323.1:c.6360_6365dup | XP_011512625.1:p.Lys2121_Asn2122insLysLys | |
| NM_001008844.2:c.5892_5897dup | NP_001008844.1:p.Lys1965_Asn1966insLysLys | |
| NM_001319034.1:c.6360_6365dup | NP_001305963.1:p.Lys2121_Asn2122insLysLys | |
| NM_004415.3:c.7689_7694dup | NP_004406.2:p.Lys2564_Asn2565insLysLys | |
| NM_004415.4:c.7689_7694dup MANE Select | NP_004406.2:p.Lys2564_Asn2565insLysLys | |
| NM_001008844.3:c.5892_5897dup | NP_001008844.1:p.Lys1965_Asn1966insLysLys | |
| NM_001319034.2:c.6360_6365dup | NP_001305963.1:p.Lys2121_Asn2122insLysLys |