Linked Data
ClinVar Variation Id:
375557
ClinVar RCV Id:
RCV000454368
dbSNP Id:
rs1060499541
MyVariant Identifiers:
chr5:g.149506141_149506142insATC (hg19)
chr5:g.150126578_150126579insATC (hg38)
PubMed:
PMID:28334876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150126578_150126579insATC , CM000667.2:g.150126578_150126579insATC | GRCh38 |
| NC_000005.9:g.149506141_149506142insATC , CM000667.1:g.149506141_149506142insATC | GRCh37 |
| NC_000005.8:g.149486334_149486335insATC | NCBI36 |
| NG_023367.1:g.34281_34282insGAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261799.9:c.1615_1616insGAT MANE Select | ENSP00000261799.4:p.Ile538_Leu539insArg | |
| ENST00000261799.8:c.1615_1616insGAT | ENSP00000261799.4:p.Ile538_Leu539insArg | |
| ENST00000520579.5:c.*929_*930insGAT | ENSP00000430026.1:n.*929_*930insGAT | |
| NM_002609.3:c.1615_1616insGAT | NP_002600.1:p.Ile538_Leu539insArg | |
| XM_005268464.2:c.1423_1424insGAT | XP_005268521.1:p.Ile474_Leu475insArg | |
| XM_011537658.1:c.1615_1616insGAT | XP_011535960.1:p.Ile538_Leu539insArg | |
| XM_011537659.1:c.1615_1616insGAT | XP_011535961.1:p.Ile538_Leu539insArg | |
| XM_011537660.1:c.1615_1616insGAT | XP_011535962.1:p.Ile538_Leu539insArg | |
| NM_001355016.1:c.1423_1424insGAT | NP_001341945.1:p.Ile474_Leu475insArg | |
| NM_001355017.1:c.1132_1133insGAT | NP_001341946.1:p.Ile377_Leu378insArg | |
| NM_002609.4:c.1615_1616insGAT MANE Select | NP_002600.1:p.Ile538_Leu539insArg | |
| NM_001355016.2:c.1423_1424insGAT | NP_001341945.1:p.Ile474_Leu475insArg | |
| NM_001355017.2:c.1132_1133insGAT | NP_001341946.1:p.Ile377_Leu378insArg |