Linked Data
ClinVar Variation Id:
53180
dbSNP Id:
rs397508152
MyVariant Identifiers:
chr7:g.117180359_117180363delinsAAAAA (hg19)
chr7:g.117540305_117540309delinsAAAAA (hg38)
PubMed:
PMID:18456578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117540305_117540309delinsAAAAA , CM000669.2:g.117540305_117540309delinsAAAAA | GRCh38 |
| NC_000007.13:g.117180359_117180363delinsAAAAA , CM000669.1:g.117180359_117180363delinsAAAAA | GRCh37 |
| NC_000007.12:g.116967595_116967599delinsAAAAA | NCBI36 |
| NG_016465.4:g.79522_79526delinsAAAAA , LRG_663:g.79522_79526delinsAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.1075_1079delinsAAAAA | ENSP00000497673.2:p.Gln359_Thr360delinsLysLys | |
| ENST00000647978.2:c.*972_*976delinsAAAAA | ENSP00000497658.1:n.*972_*976delinsAAAAA | |
| ENST00000649781.2:c.1075_1079delinsAAAAA | ENSP00000497203.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000685018.2:c.1075_1079delinsAAAAA | ENSP00000510194.2:p.Gln359_Thr360delinsLysLys | |
| ENST00000687278.2:c.1075_1079delinsAAAAA | ENSP00000509593.2:p.Gln359_Thr360delinsLysLys | |
| ENST00000699585.1:c.1075_1079delinsAAAAA | ENSP00000514456.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000699596.1:c.1075_1079delinsAAAAA | ENSP00000514465.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000699597.1:c.1075_1079delinsAAAAA | ENSP00000514466.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000699598.1:c.1075_1079delinsAAAAA | ENSP00000514467.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000699599.1:c.1075_1079delinsAAAAA | ENSP00000514468.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000699600.1:c.1075_1079delinsAAAAA | ENSP00000514469.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000699601.1:c.1075_1079delinsAAAAA | ENSP00000514470.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000699602.1:c.1075_1079delinsAAAAA | ENSP00000514471.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000699604.1:c.*899_*903delinsAAAAA | ENSP00000514472.1:n.*899_*903delinsAAAAA | |
| ENST00000699605.1:c.832_836delinsAAAAA | ENSP00000514473.1:p.Gln278_Thr279delinsLysLys | |
| ENST00000003084.11:c.1075_1079delinsAAAAA MANE Select | ENSP00000003084.6:p.Gln359_Thr360delinsLysLys | |
| ENST00000647978.1:c.*972_*976delinsAAAAA | ENSP00000497658.1:n.*972_*976delinsAAAAA | |
| ENST00000648260.1:c.1075_1079delinsAAAAA | ENSP00000497957.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000649406.1:c.1075_1079delinsAAAAA | ENSP00000497965.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000649781.1:c.1075_1079delinsAAAAA | ENSP00000497203.1:p.Gln359_Thr360delinsLysLys | |
| ENST00000673785.1:c.832_836delinsAAAAA | ENSP00000501235.1:p.Gln278_Thr279delinsLysLys | |
| ENST00000003084.10:c.1075_1079delinsAAAAA | ENSP00000003084.6:p.Gln359_Thr360delinsLysLys | |
| ENST00000426809.5:c.985_989delinsAAAAA | ENSP00000389119.1:p.Gln329_Thr330delinsLysLys | |
| NM_000492.3:c.1075_1079delinsAAAAA , LRG_663t1:c.1075_1079delinsAAAAA | NP_000483.3:p.Gln359_Thr360delinsLysLys | |
| XM_011515751.1:c.1165_1169delinsAAAAA | XP_011514053.1:p.Gln389_Thr390delinsLysLys | |
| XM_011515752.1:c.1165_1169delinsAAAAA | XP_011514054.1:p.Gln389_Thr390delinsLysLys | |
| XM_011515753.1:c.832_836delinsAAAAA | XP_011514055.1:p.Gln278_Thr279delinsLysLys | |
| XM_011515754.1:c.832_836delinsAAAAA | XP_011514056.1:p.Gln278_Thr279delinsLysLys | |
| NM_000492.4:c.1075_1079delinsAAAAA MANE Select | NP_000483.3:p.Gln359_Thr360delinsLysLys |