Linked Data
ClinVar Variation Id:
5683
ClinVar RCV Id:
RCV000006037
dbSNP Id:
rs1467767014
gnomAD v2:
22-50962652-G-GATCAGCAGCC
gnomAD v4:
22-50524223-G-GATCAGCAGCC
MyVariant Identifiers:
chr22:g.50962652_50962653insATCAGCAGCC (hg19)
chr22:g.50524223_50524224insATCAGCAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50524224_50524233dup , CM000684.2:g.50524224_50524233dup | GRCh38 |
| NC_000022.10:g.50962653_50962662dup , CM000684.1:g.50962653_50962662dup | GRCh37 |
| NC_000022.9:g.49309519_49309528dup | NCBI36 |
| NG_011860.1:g.10853_10862dup , LRG_727:g.10853_10862dup | |
| NG_016235.1:g.7207_7216dup | |
| NG_021419.1:g.21009_21018dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395693.8:c.179_188dup (SCO2) MANE Select | ENSP00000379046.4:p.Ile63MetfsTer22 | |
| ENST00000420993.7:c.*849_*858dup (NCAPH2) MANE Select | ENSP00000410088.2:n.*849_*858dup | |
| ENST00000543927.6:c.179_188dup (SCO2) | ENSP00000444433.1:p.Ile63MetfsTer22 | |
| ENST00000638598.2:c.179_188dup (SCO2) | ENSP00000491753.2:p.Ile63MetfsTer22 | |
| ENST00000252785.3:c.179_188dup | ENSP00000252785.3:p.Ile63MetfsTer22 | |
| ENST00000395693.7:c.179_188dup | ENSP00000379046.3:p.Ile63MetfsTer22 | |
| ENST00000423348.1:c.179_188dup | ENSP00000403570.1:p.Ile63MetfsTer22 | |
| ENST00000439934.5:c.179_188dup | ENSP00000415642.1:p.Ile63MetfsTer22 | |
| ENST00000535425.5:c.179_188dup | ENSP00000444242.1:p.Ile63MetfsTer22 | |
| ENST00000543927.5:c.179_188dup | ENSP00000444433.1:p.Ile63MetfsTer22 | |
| NM_001169109.1:c.179_188dup (SCO2) | NP_001162580.1:p.Ile63MetfsTer22 | |
| NM_001169110.1:c.179_188dup (SCO2) | NP_001162581.1:p.Ile63MetfsTer22 | |
| NM_001169111.1:c.179_188dup (SCO2) | NP_001162582.1:p.Ile63MetfsTer22 | |
| NM_001185011.1:c.*849_*858dup (NCAPH2) | NP_001171940.1:n.*849_*858dup | |
| NM_005138.2:c.179_188dup (SCO2) | NP_005129.2:p.Ile63MetfsTer22 | |
| NM_152299.3:c.*849_*858dup (NCAPH2) | NP_689512.2:n.*849_*858dup | |
| XR_001755232.1:n.2877_2886dup (NCAPH2) | ||
| NM_152299.4:c.*849_*858dup (NCAPH2) MANE Select | NP_689512.2:n.*849_*858dup | |
| NM_001185011.2:c.*849_*858dup (NCAPH2) | NP_001171940.1:n.*849_*858dup | |
| NM_005138.3:c.179_188dup (SCO2) MANE Select | NP_005129.2:p.Ile63MetfsTer22 | |
| NM_001169109.2:c.179_188dup (SCO2) | NP_001162580.1:p.Ile63MetfsTer22 | |
| NM_001169111.2:c.179_188dup (SCO2) | NP_001162582.1:p.Ile63MetfsTer22 |