Linked Data
ClinVar Variation Id:
373197
ClinVar RCV Id:
RCV000413011
dbSNP Id:
rs1057518277
MyVariant Identifiers:
chr5:g.13901354_13901355delinsCT (hg19)
chr5:g.13901245_13901246delinsCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13901245_13901246delinsCT , CM000667.2:g.13901245_13901246delinsCT | GRCh38 |
| NC_000005.9:g.13901354_13901355delinsCT , CM000667.1:g.13901354_13901355delinsCT | GRCh37 |
| NC_000005.8:g.13954354_13954355delinsCT | NCBI36 |
| NG_013081.1:g.48235_48236delinsAG | |
| NG_013081.2:g.48235_48236delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.2052+6_2052+7delinsAG MANE Select | ENSP00000265104.4:n.2052+6_2052+7delinsAG... | |
| ENST00000681290.1:c.2007+6_2007+7delinsAG | ENSP00000505288.1:n.2007+6_2007+7delinsAG... | |
| ENST00000265104.4:c.2052+6_2052+7delinsAG | ENSP00000265104.4:n.2052+6_2052+7delinsAG... | |
| NM_001369.2:c.2052+6_2052+7delinsAG | NP_001360.1:n.2052+6_2052+7delinsAG | |
| XM_005248262.2:c.2007+6_2007+7delinsAG | XP_005248319.1:n.2007+6_2007+7delinsAG | |
| XM_011513990.1:c.2052+6_2052+7delinsAG | XP_011512292.1:n.2052+6_2052+7delinsAG | |
| XR_925598.1:n.2259+6_2259+7delinsAG | ||
| XM_005248262.3:c.2160+6_2160+7delinsAG | XP_005248319.2:n.2160+6_2160+7delinsAG | |
| XM_017009177.1:c.2160+6_2160+7delinsAG | XP_016864666.1:n.2160+6_2160+7delinsAG | |
| XM_017009178.1:c.1065+6_1065+7delinsAG | XP_016864667.1:n.1065+6_1065+7delinsAG | |
| XM_017009179.2:c.1065+6_1065+7delinsAG | XP_016864668.1:n.1065+6_1065+7delinsAG | |
| XM_017009180.1:c.2160+6_2160+7delinsAG | XP_016864669.1:n.2160+6_2160+7delinsAG | |
| XM_017009181.1:c.2160+6_2160+7delinsAG | XP_016864670.1:n.2160+6_2160+7delinsAG | |
| XM_017009182.1:c.2160+6_2160+7delinsAG | XP_016864671.1:n.2160+6_2160+7delinsAG | |
| XM_017009183.1:c.2160+6_2160+7delinsAG | XP_016864672.1:n.2160+6_2160+7delinsAG | |
| XM_017009184.1:c.2160+6_2160+7delinsAG | XP_016864673.1:n.2160+6_2160+7delinsAG | |
| XM_017009187.1:c.2160+6_2160+7delinsAG | XP_016864676.1:n.2160+6_2160+7delinsAG | |
| XM_024454388.1:c.1065+6_1065+7delinsAG | XP_024310156.1:n.1065+6_1065+7delinsAG | |
| XM_024454389.1:c.654+6_654+7delinsAG | XP_024310157.1:n.654+6_654+7delinsAG | |
| XR_001742034.1:n.2177+6_2177+7delinsAG | ||
| XR_001742035.1:n.2177+6_2177+7delinsAG | ||
| NM_001369.3:c.2052+6_2052+7delinsAG MANE Select | NP_001360.1:n.2052+6_2052+7delinsAG |