Linked Data
ClinVar Variation Id:
12931
ClinVar RCV Id:
RCV000013794
dbSNP Id:
rs121918610
MyVariant Identifiers:
chr5:g.176813020_176813021delinsTT (hg19)
chr5:g.177386019_177386020delinsTT (hg38)
PubMed:
PMID:12324554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177386019_177386020delinsTT , CM000667.2:g.177386019_177386020delinsTT | GRCh38 |
| NC_000005.9:g.176813020_176813021delinsTT , CM000667.1:g.176813020_176813021delinsTT | GRCh37 |
| NC_000005.8:g.176745626_176745627delinsTT | NCBI36 |
| NG_016223.1:g.6589_6590delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324417.6:c.142_143delinsTT MANE Select | ENSP00000321424.4:p.Ala48Phe | |
| ENST00000324417.5:c.142_143delinsTT | ENSP00000321424.4:p.Ala48Phe | |
| ENST00000504577.5:c.142_143delinsTT | ENSP00000423733.1:p.Ala48Phe | |
| ENST00000507685.5:n.226_227delinsTT | ||
| ENST00000512593.5:c.142_143delinsTT | ENSP00000423022.1:p.Ala48Phe | |
| NM_001167579.1:c.142_143delinsTT | NP_001161051.1:p.Ala48Phe | |
| NM_003052.4:c.142_143delinsTT | NP_003043.3:p.Ala48Phe | |
| XM_005265975.1:c.142_143delinsTT | XP_005266032.1:p.Ala48Phe | |
| XR_941112.1:n.189_190delinsTT | ||
| XR_941113.1:n.189_190delinsTT | ||
| XM_017009773.2:c.142_143delinsTT | XP_016865262.1:p.Ala48Phe | |
| XM_017009775.2:c.142_143delinsTT | XP_016865264.1:p.Ala48Phe | |
| XM_024446191.1:c.142_143delinsTT | XP_024301959.1:p.Ala48Phe | |
| XR_941112.2:n.243_244delinsTT | ||
| XR_941113.2:n.243_244delinsTT | ||
| NM_003052.5:c.142_143delinsTT MANE Select | NP_003043.3:p.Ala48Phe | |
| NM_001167579.2:c.142_143delinsTT | NP_001161051.1:p.Ala48Phe |