Linked Data
dbSNP Id:
rs1224257525
gnomAD v2:
5-37049381-A-ACAAAACGTTAC
MyVariant Identifiers:
chr5:g.37049381_37049382insCAAAACGTTAC (hg19)
chr5:g.37049279_37049280insCAAAACGTTAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37049279_37049280insCAAAACGTTAC , CM000667.2:g.37049279_37049280insCAAAACGTTAC | GRCh38 |
| NC_000005.9:g.37049381_37049382insCAAAACGTTAC , CM000667.1:g.37049381_37049382insCAAAACGTTAC | GRCh37 |
| NC_000005.8:g.37085138_37085139insCAAAACGTTAC | NCBI36 |
| NG_006987.1:g.177397_177398insCAAAACGTTAC | |
| NG_006987.2:g.177397_177398insCAAAACGTTAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.6932_6933insCAAAACGTTAC MANE Select | ENSP00000282516.8:p.Gln2311HisfsTer17 | |
| ENST00000652901.1:c.6932_6933insCAAAACGTTAC | ENSP00000499536.1:p.Gln2311HisfsTer17 | |
| ENST00000282516.12:c.6932_6933insCAAAACGTTAC | ENSP00000282516.8:p.Gln2311HisfsTer17 | |
| ENST00000448238.2:c.6932_6933insCAAAACGTTAC | ENSP00000406266.2:p.Gln2311HisfsTer17 | |
| ENST00000621733.1:c.1-15299_1-15298insCAAAACGTTAC | ENSP00000480694.1:n.1-15299_1-15298insCAAAACGTTAC | |
| NM_015384.4:c.6932_6933insCAAAACGTTAC | NP_056199.2:p.Gln2311HisfsTer17 | |
| NM_133433.3:c.6932_6933insCAAAACGTTAC | NP_597677.2:p.Gln2311HisfsTer17 | |
| XM_005248280.2:c.6932_6933insCAAAACGTTAC | XP_005248337.1:p.Gln2311HisfsTer17 | |
| XM_005248282.3:c.6188_6189insCAAAACGTTAC | XP_005248339.2:p.Gln2063HisfsTer17 | |
| XM_006714467.2:c.6932_6933insCAAAACGTTAC | XP_006714530.1:p.Gln2311HisfsTer17 | |
| XM_006714468.1:c.6734_6735insCAAAACGTTAC | XP_006714531.1:p.Gln2245HisfsTer17 | |
| XM_011514014.1:c.6551_6552insCAAAACGTTAC | XP_011512316.1:p.Gln2184HisfsTer17 | |
| XM_011514015.1:c.6932_6933insCAAAACGTTAC | XP_011512317.1:p.Gln2311HisfsTer17 | |
| XM_005248280.3:c.6932_6933insCAAAACGTTAC | XP_005248337.1:p.Gln2311HisfsTer17 | |
| XM_005248282.5:c.6272_6273insCAAAACGTTAC | XP_005248339.3:p.Gln2091HisfsTer17 | |
| XM_006714468.2:c.6734_6735insCAAAACGTTAC | XP_006714531.1:p.Gln2245HisfsTer17 | |
| XM_017009329.1:c.6932_6933insCAAAACGTTAC | XP_016864818.1:p.Gln2311HisfsTer17 | |
| XM_017009330.2:c.5315_5316insCAAAACGTTAC | XP_016864819.1:p.Gln1772HisfsTer17 | |
| XM_017009331.1:c.5306_5307insCAAAACGTTAC | XP_016864820.1:p.Gln1769HisfsTer17 | |
| NM_133433.4:c.6932_6933insCAAAACGTTAC MANE Select | NP_597677.2:p.Gln2311HisfsTer17 | |
| NM_015384.5:c.6932_6933insCAAAACGTTAC | NP_056199.2:p.Gln2311HisfsTer17 |