Linked Data
dbSNP Id:
rs777107553
ExAC:
1:235652457 G / GTT
gnomAD v2:
1-235652457-G-GTT
gnomAD v4:
1-235489152-G-GTT
MyVariant Identifiers:
chr1:g.235652457_235652458insTT (hg19)
chr1:g.235489152_235489153insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235489152_235489153insTT , CM000663.2:g.235489152_235489153insTT | GRCh38 |
| NC_000001.10:g.235652457_235652458insTT , CM000663.1:g.235652457_235652458insTT | GRCh37 |
| NC_000001.9:g.233719080_233719081insTT | NCBI36 |
| NG_033219.2:g.20329_20330insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366600.8:c.361+15_361+16insAA MANE Select | ENSP00000355559.3:n.361+15_361+16insAA | |
| ENST00000675193.1:c.484+15_484+16insAA | ENSP00000502069.1:n.484+15_484+16insAA | |
| ENST00000675555.1:c.139+15_139+16insAA | ENSP00000501896.1:n.139+15_139+16insAA | |
| ENST00000676288.1:c.484+15_484+16insAA | ENSP00000502392.1:n.484+15_484+16insAA | |
| ENST00000313984.3:c.484+15_484+16insAA | ENSP00000315678.3:n.484+15_484+16insAA | |
| ENST00000366600.7:c.361+15_361+16insAA | ENSP00000355559.3:n.361+15_361+16insAA | |
| ENST00000494378.1:n.434-4638_434-4637insAA | ||
| ENST00000612859.4:c.261-4638_261-4637insAA | ENSP00000481548.1:n.261-4638_261-4637insAA | |
| NM_001277155.2:c.484+15_484+16insAA | NP_001264084.1:n.484+15_484+16insAA | |
| NM_152490.4:c.361+15_361+16insAA | NP_689703.1:n.361+15_361+16insAA | |
| XM_005273071.3:c.361+15_361+16insAA | XP_005273128.1:n.361+15_361+16insAA | |
| XM_006711749.2:c.361+15_361+16insAA | XP_006711812.1:n.361+15_361+16insAA | |
| XM_011544096.1:c.361+15_361+16insAA | XP_011542398.1:n.361+15_361+16insAA | |
| XM_011544097.1:c.361+15_361+16insAA | XP_011542399.1:n.361+15_361+16insAA | |
| XM_006711749.3:c.361+15_361+16insAA | XP_006711812.1:n.361+15_361+16insAA | |
| XM_017000394.1:c.484+15_484+16insAA | XP_016855883.1:n.484+15_484+16insAA | |
| XM_017000395.1:c.484+15_484+16insAA | XP_016855884.1:n.484+15_484+16insAA | |
| XR_001736987.1:n.649+15_649+16insAA | ||
| XR_001736988.1:n.649+15_649+16insAA | ||
| XR_001736989.1:n.649+15_649+16insAA | ||
| XR_001736990.1:n.532+15_532+16insAA | ||
| NM_152490.5:c.361+15_361+16insAA MANE Select | NP_689703.1:n.361+15_361+16insAA | |
| NM_001277155.3:c.484+15_484+16insAA | NP_001264084.1:n.484+15_484+16insAA |