Linked Data
ClinVar Variation Id:
211622
ClinVar RCV Id:
RCV000194449
dbSNP Id:
rs797045746
MyVariant Identifiers:
chr5:g.36976457_36976458delinsCTCCCTT (hg19)
chr5:g.36976355_36976356delinsCTCCCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36976355_36976356delinsCTCCCTT , CM000667.2:g.36976355_36976356delinsCTCCCTT | GRCh38 |
| NC_000005.9:g.36976457_36976458delinsCTCCCTT , CM000667.1:g.36976457_36976458delinsCTCCCTT | GRCh37 |
| NC_000005.8:g.37012214_37012215delinsCTCCCTT | NCBI36 |
| NG_006987.1:g.104473_104474delinsCTCCCTT | |
| NG_006987.2:g.104473_104474delinsCTCCCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.1448_1449delinsCTCCCTT MANE Select | ENSP00000282516.8:p.Glu483AlafsTer22 | |
| ENST00000652901.1:c.1448_1449delinsCTCCCTT | ENSP00000499536.1:p.Glu483AlafsTer22 | |
| ENST00000282516.12:c.1448_1449delinsCTCCCTT | ENSP00000282516.8:p.Glu483AlafsTer22 | |
| ENST00000448238.2:c.1448_1449delinsCTCCCTT | ENSP00000406266.2:p.Glu483AlafsTer22 | |
| ENST00000504430.5:n.1068_1069delinsCTCCCTT | ||
| ENST00000621733.1:c.1-88223_1-88222delinsCTCCCTT | ENSP00000480694.1:n.1-88223_1-88222delinsCTCCCTT | |
| NM_015384.4:c.1448_1449delinsCTCCCTT | NP_056199.2:p.Glu483AlafsTer22 | |
| NM_133433.3:c.1448_1449delinsCTCCCTT | NP_597677.2:p.Glu483AlafsTer22 | |
| XM_005248280.2:c.1448_1449delinsCTCCCTT | XP_005248337.1:p.Glu483AlafsTer22 | |
| XM_005248282.3:c.704_705delinsCTCCCTT | XP_005248339.2:p.Glu235AlafsTer22 | |
| XM_006714467.2:c.1448_1449delinsCTCCCTT | XP_006714530.1:p.Glu483AlafsTer22 | |
| XM_006714468.1:c.1448_1449delinsCTCCCTT | XP_006714531.1:p.Glu483AlafsTer22 | |
| XM_011514014.1:c.1448_1449delinsCTCCCTT | XP_011512316.1:p.Glu483AlafsTer22 | |
| XM_011514015.1:c.1448_1449delinsCTCCCTT | XP_011512317.1:p.Glu483AlafsTer22 | |
| XM_005248280.3:c.1448_1449delinsCTCCCTT | XP_005248337.1:p.Glu483AlafsTer22 | |
| XM_005248282.5:c.788_789delinsCTCCCTT | XP_005248339.3:p.Glu263AlafsTer22 | |
| XM_006714468.2:c.1448_1449delinsCTCCCTT | XP_006714531.1:p.Glu483AlafsTer22 | |
| XM_017009329.1:c.1448_1449delinsCTCCCTT | XP_016864818.1:p.Glu483AlafsTer22 | |
| XM_017009331.1:c.1448_1449delinsCTCCCTT | XP_016864820.1:p.Glu483AlafsTer21 | |
| NM_133433.4:c.1448_1449delinsCTCCCTT MANE Select | NP_597677.2:p.Glu483AlafsTer22 | |
| NM_015384.5:c.1448_1449delinsCTCCCTT | NP_056199.2:p.Glu483AlafsTer22 |