Linked Data
dbSNP Id:
rs1555196692
gnomAD v3:
12-40363312-A-ACGTG
gnomAD v4:
12-40363312-A-ACGTG
MyVariant Identifiers:
chr12:g.40757114_40757115insCGTG (hg19)
chr12:g.40363312_40363313insCGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363313_40363314insGTGC , CM000674.2:g.40363313_40363314insGTGC | GRCh38 |
| NC_000012.11:g.40757115_40757116insGTGC , CM000674.1:g.40757115_40757116insGTGC | GRCh37 |
| NC_000012.10:g.39043382_39043383insGTGC | NCBI36 |
| NG_011709.1:g.143303_143304insGTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7029-89_7029-88insGTGC MANE Select | ENSP00000298910.7:n.7029-89_7029-88insGTGC | |
| ENST00000636518.1:c.826-89_826-88insGTGC | ||
| ENST00000679360.1:c.*5938-89_*5938-88insGTGC | ENSP00000505368.1:n.*5938-89_*5938-88insGTGC | |
| ENST00000679532.1:c.2803-89_2803-88insGTGC | ||
| ENST00000679683.1:c.819-89_819-88insGTGC | ||
| ENST00000680018.1:c.2474-89_2474-88insGTGC | ENSP00000505347.1:n.2474-89_2474-88insGTGC | |
| ENST00000680422.1:c.4116-89_4116-88insGTGC | ||
| ENST00000680425.1:c.2196-89_2196-88insGTGC | ENSP00000506459.1:n.2196-89_2196-88insGTGC | |
| ENST00000680453.1:c.2486-89_2486-88insGTGC | ||
| ENST00000680790.1:c.6774-89_6774-88insGTGC | ENSP00000505335.1:n.6774-89_6774-88insGTGC | |
| ENST00000681136.1:n.3013-89_3013-88insGTGC | ||
| ENST00000681696.1:c.2712-89_2712-88insGTGC | ENSP00000505871.1:n.2712-89_2712-88insGTGC | |
| ENST00000681773.1:n.236-89_236-88insGTGC | ||
| ENST00000298910.11:c.7029-89_7029-88insGTGC | ENSP00000298910.7:n.7029-89_7029-88insGTGC | |
| ENST00000430804.5:c.4325-89_4325-88insGTGC | ||
| ENST00000479187.5:n.3710-89_3710-88insGTGC | ||
| NM_198578.3:c.7029-89_7029-88insGTGC | NP_940980.3:n.7029-89_7029-88insGTGC | |
| XM_005268629.2:c.7029-89_7029-88insGTGC | XP_005268686.1:n.7029-89_7029-88insGTGC | |
| XM_011537877.1:c.7029-89_7029-88insGTGC | XP_011536179.1:n.7029-89_7029-88insGTGC | |
| XM_011537878.1:c.*788_*789insGTGC | XP_011536180.1:n.*788_*789insGTGC | |
| XM_011537879.1:c.5826-89_5826-88insGTGC | XP_011536181.1:n.5826-89_5826-88insGTGC | |
| XR_944868.1:n.485-8486_485-8485insCACG | ||
| XM_005268629.4:c.7029-89_7029-88insGTGC | XP_005268686.1:n.7029-89_7029-88insGTGC | |
| XM_011537877.3:c.7029-89_7029-88insGTGC | XP_011536179.1:n.7029-89_7029-88insGTGC | |
| XM_017018787.1:c.3945-89_3945-88insGTGC | XP_016874276.1:n.3945-89_3945-88insGTGC | |
| XM_017018788.2:c.3291-89_3291-88insGTGC | XP_016874277.1:n.3291-89_3291-88insGTGC | |
| XM_024448833.1:c.5826-89_5826-88insGTGC | XP_024304601.1:n.5826-89_5826-88insGTGC | |
| XR_944868.2:n.485-8486_485-8485insCACG | ||
| NM_198578.4:c.7029-89_7029-88insGTGC MANE Select | NP_940980.4:n.7029-89_7029-88insGTGC |