Linked Data
ClinVar Variation Id:
1399
ClinVar RCV Id:
RCV000001464
dbSNP Id:
rs869320724
gnomAD v3:
22-37069307-T-TGC
gnomAD v4:
22-37069307-T-TGC
MyVariant Identifiers:
chr22:g.37465348_37465349dupGC (hg19)
chr22:g.37465347_37465348insGC (hg19)
chr22:g.37069308_37069309dupGC (hg38)
chr22:g.37069307_37069308insGC (hg38)
PubMed:
PMID:18408718
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37069308_37069309dup , CM000684.2:g.37069308_37069309dup | GRCh38 |
| NC_000022.10:g.37465348_37465349dup , CM000684.1:g.37465348_37465349dup | GRCh37 |
| NC_000022.9:g.35795294_35795295dup | NCBI36 |
| NG_012856.2:g.45255_45256dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346753.9:c.1877_1878dup | ENSP00000334962.6:p.Lys627AlafsTer17 | |
| ENST00000406725.6:c.1877_1878dup | ENSP00000385453.1:p.Lys627AlafsTer17 | |
| ENST00000406856.7:c.1877_1878dup | ENSP00000384964.1:p.Lys627AlafsTer17 | |
| ENST00000676104.1:c.1877_1878dup MANE Select | ENSP00000501573.1:p.Lys627AlafsTer17 | |
| ENST00000346753.7:c.1904_1905dup | ENSP00000334962.5:p.Lys636AlafsTer17 | |
| ENST00000381792.6:c.1877_1878dup | ENSP00000371211.2:p.Lys627AlafsTer17 | |
| ENST00000406725.5:c.1877_1878dup | ENSP00000385453.1:p.Lys627AlafsTer17 | |
| ENST00000406856.5:c.1877_1878dup | ENSP00000384964.1:p.Lys627AlafsTer17 | |
| NM_001289000.1:c.1877_1878dup | NP_001275929.1:p.Lys627AlafsTer17 | |
| NM_001289001.1:c.1877_1878dup | NP_001275930.1:p.Lys627AlafsTer17 | |
| NM_153609.3:c.1904_1905dup | NP_705837.1:p.Lys636AlafsTer17 | |
| XM_006724162.1:c.1877_1878dup | XP_006724225.1:p.Lys627AlafsTer17 | |
| XM_006724163.2:c.1877_1878dup | XP_006724226.1:p.Lys627AlafsTer17 | |
| XM_011529987.1:c.1877_1878dup | XP_011528289.1:p.Lys627AlafsTer17 | |
| XM_011529988.1:c.1877_1878dup | XP_011528290.1:p.Lys627AlafsTer17 | |
| XM_011529989.1:c.1445_1446dup | XP_011528291.1:p.Lys483AlafsTer17 | |
| XM_011529989.2:c.1445_1446dup | XP_011528291.1:p.Lys483AlafsTer17 | |
| XM_024452167.1:c.1877_1878dup | XP_024307935.1:p.Lys627AlafsTer17 | |
| XM_024452168.1:c.1877_1878dup | XP_024307936.1:p.Lys627AlafsTer17 | |
| XM_024452169.1:c.1877_1878dup | XP_024307937.1:p.Lys627AlafsTer17 | |
| XM_024452170.1:c.1877_1878dup | XP_024307938.1:p.Lys627AlafsTer17 | |
| XM_024452171.1:c.1877_1878dup | XP_024307939.1:p.Lys627AlafsTer17 | |
| NM_001289000.2:c.1877_1878dup | NP_001275929.1:p.Lys627AlafsTer17 | |
| NM_001289001.2:c.1877_1878dup | NP_001275930.1:p.Lys627AlafsTer17 | |
| NM_001374504.1:c.1877_1878dup MANE Select | NP_001361433.1:p.Lys627AlafsTer17 | |
| NM_153609.4:c.1877_1878dup | NP_705837.2:p.Lys627AlafsTer17 |