Linked Data
ClinVar Variation Id:
445882
ClinVar RCV Id:
RCV000513881
dbSNP Id:
rs1553461069
MyVariant Identifiers:
chr2:g.32713660_32713661insTCAC (hg19)
chr2:g.32488593_32488594insTCAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32488595_32488598dup , CM000664.2:g.32488595_32488598dup | GRCh38 |
| NC_000002.11:g.32713662_32713665dup , CM000664.1:g.32713662_32713665dup | GRCh37 |
| NC_000002.10:g.32567166_32567169dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700518.1:c.7925_7928dup | ENSP00000515025.1:p.Leu2644ThrfsTer13 | |
| ENST00000700519.1:c.7916_7919dup | ENSP00000515026.1:p.Leu2641ThrfsTer13 | |
| ENST00000421745.7:c.7976_7979dup MANE Select | ENSP00000393596.2:p.Leu2661ThrfsTer13 | |
| ENST00000648282.1:c.7762_7765dup | ||
| ENST00000421745.6:c.7976_7979dup | ENSP00000393596.2:p.Leu2661ThrfsTer13 | |
| NM_016252.3:c.7976_7979dup | NP_057336.3:p.Leu2661ThrfsTer13 | |
| XM_005264449.3:c.8057_8060dup | XP_005264506.2:p.Leu2688ThrfsTer13 | |
| XM_005264450.3:c.8045_8048dup | XP_005264507.2:p.Leu2684ThrfsTer13 | |
| XM_005264451.3:c.8030_8033dup | XP_005264508.2:p.Leu2679ThrfsTer13 | |
| XM_005264452.3:c.8015_8018dup | XP_005264509.2:p.Leu2674ThrfsTer13 | |
| XM_005264453.3:c.7988_7991dup | XP_005264510.2:p.Leu2665ThrfsTer13 | |
| XM_005264454.3:c.8057_8060dup | XP_005264511.2:p.Leu2688ThrfsTer13 | |
| XM_005264455.3:c.7925_7928dup | XP_005264512.2:p.Leu2644ThrfsTer13 | |
| XM_006712054.2:c.8039_8042dup | XP_006712117.1:p.Leu2682ThrfsTer13 | |
| XM_006712055.2:c.8057_8060dup | XP_006712118.1:p.Leu2688ThrfsTer13 | |
| XM_006712056.2:c.7958_7961dup | XP_006712119.1:p.Leu2655ThrfsTer13 | |
| XM_006712057.2:c.7841_7844dup | XP_006712120.1:p.Leu2616ThrfsTer13 | |
| XM_011533003.1:c.7742_7745dup | XP_011531305.1:p.Leu2583ThrfsTer13 | |
| XM_011533004.1:c.8057_8060dup | XP_011531306.1:p.Leu2688ThrfsTer13 | |
| XM_011533005.1:c.8057_8060dup | XP_011531307.1:p.Leu2688ThrfsTer13 | |
| XR_244950.3:n.8087_8090dup | ||
| XM_005264449.4:c.8057_8060dup | XP_005264506.2:p.Leu2688ThrfsTer13 | |
| XM_005264450.4:c.8045_8048dup | XP_005264507.2:p.Leu2684ThrfsTer13 | |
| XM_005264451.4:c.8030_8033dup | XP_005264508.2:p.Leu2679ThrfsTer13 | |
| XM_005264452.4:c.8015_8018dup | XP_005264509.2:p.Leu2674ThrfsTer13 | |
| XM_005264453.4:c.7988_7991dup | XP_005264510.2:p.Leu2665ThrfsTer13 | |
| XM_005264454.5:c.8057_8060dup | XP_005264511.2:p.Leu2688ThrfsTer13 | |
| XM_005264455.4:c.7925_7928dup | XP_005264512.2:p.Leu2644ThrfsTer13 | |
| XM_006712054.3:c.8039_8042dup | XP_006712117.1:p.Leu2682ThrfsTer13 | |
| XM_006712055.3:c.8057_8060dup | XP_006712118.1:p.Leu2688ThrfsTer13 | |
| XM_006712056.3:c.7958_7961dup | XP_006712119.1:p.Leu2655ThrfsTer13 | |
| XM_011533003.2:c.7742_7745dup | XP_011531305.1:p.Leu2583ThrfsTer13 | |
| XM_011533005.2:c.8057_8060dup | XP_011531307.1:p.Leu2688ThrfsTer13 | |
| XM_017004556.1:c.8039_8042dup | XP_016860045.1:p.Leu2682ThrfsTer13 | |
| XM_017004557.1:c.7946_7949dup | XP_016860046.1:p.Leu2651ThrfsTer13 | |
| XM_017004558.1:c.7916_7919dup | XP_016860047.1:p.Leu2641ThrfsTer13 | |
| XM_017004559.1:c.8057_8060dup | XP_016860048.1:p.Leu2688ThrfsTer13 | |
| XM_017004560.1:c.8039_8042dup | XP_016860049.1:p.Leu2682ThrfsTer13 | |
| XR_001738858.2:n.8312_8315dup | ||
| XR_244950.4:n.8312_8315dup | ||
| NM_001378125.1:c.7973_7976dup | NP_001365054.1:p.Leu2660ThrfsTer13 | |
| NM_016252.4:c.7976_7979dup MANE Select | NP_057336.3:p.Leu2661ThrfsTer13 |