Linked Data
dbSNP Id:
rs1240535138
gnomAD v2:
12-56087044-A-ATCT
gnomAD v4:
12-55693260-A-ATCT
MyVariant Identifiers:
chr12:g.56087044_56087045insTCT (hg19)
chr12:g.55693260_55693261insTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55693260_55693261insTCT , CM000674.2:g.55693260_55693261insTCT | GRCh38 |
| NC_000012.11:g.56087044_56087045insTCT , CM000674.1:g.56087044_56087045insTCT | GRCh37 |
| NC_000012.10:g.54373311_54373312insTCT | NCBI36 |
| NG_012343.1:g.24045_24046insAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*2216_*2217insAGA | ENSP00000452467.1:n.*2216_*2217insAGA | |
| ENST00000554327.6:c.1263_1264insAGA | ||
| ENST00000557058.2:n.2007_2008insAGA | ||
| ENST00000557257.2:c.2118_2119insAGA | ENSP00000450578.2:p.Met706_Trp707insArg | |
| ENST00000557555.3:c.2604_2605insAGA | ENSP00000451039.3:p.Met868_Trp869insArg | |
| ENST00000686981.1:c.*2303_*2304insAGA | ENSP00000510795.1:n.*2303_*2304insAGA | |
| ENST00000687390.1:n.698_699insAGA | ||
| ENST00000691052.1:c.*1076_*1077insAGA | ENSP00000508886.1:n.*1076_*1077insAGA | |
| ENST00000691846.1:c.1405_1406insAGA | ||
| ENST00000691973.1:c.2604_2605insAGA | ENSP00000509141.1:p.Met868_Trp869insArg | |
| ENST00000257879.11:c.2592_2593insAGA MANE Select | ENSP00000257879.7:p.Met864_Trp865insArg | |
| ENST00000553804.6:c.2604_2605insAGA | ENSP00000452120.1:p.Met868_Trp869insArg | |
| ENST00000257879.10:c.2592_2593insAGA | ENSP00000257879.6:p.Met864_Trp865insArg | |
| ENST00000347027.10:c.2574_2575insAGA | ENSP00000343009.6:p.Met858_Trp859insArg | |
| ENST00000452168.6:c.2313_2314insAGA | ENSP00000393844.2:p.Met771_Trp772insArg | |
| ENST00000553804.5:c.2604_2605insAGA | ENSP00000452120.1:p.Met868_Trp869insArg | |
| ENST00000554327.5:c.657_658insAGA | ||
| ENST00000555728.5:c.2724_2725insAGA | ENSP00000452387.1:p.Met908_Trp909insArg | |
| NM_001144996.1:c.2604_2605insAGA | NP_001138468.1:p.Met868_Trp869insArg | |
| NM_001144997.1:c.2313_2314insAGA | NP_001138469.1:p.Met771_Trp772insArg | |
| NM_002206.2:c.2592_2593insAGA | NP_002197.2:p.Met864_Trp865insArg | |
| XM_005268839.1:c.2724_2725insAGA | XP_005268896.1:p.Met908_Trp909insArg | |
| XM_005268840.1:c.2706_2707insAGA | XP_005268897.1:p.Met902_Trp903insArg | |
| XM_005268841.1:c.2724_2725insAGA | XP_005268898.1:p.Met908_Trp909insArg | |
| XM_005268842.1:c.2574_2575insAGA | XP_005268899.1:p.Met858_Trp859insArg | |
| XM_005268844.1:c.2385_2386insAGA | XP_005268901.1:p.Met795_Trp796insArg | |
| XM_005268845.1:c.2253_2254insAGA | XP_005268902.1:p.Met751_Trp752insArg | |
| XM_005268846.1:c.2253_2254insAGA | XP_005268903.1:p.Met751_Trp752insArg | |
| XM_005268847.1:c.2250_2251insAGA | XP_005268904.1:p.Met750_Trp751insArg | |
| XM_005268848.1:c.2250_2251insAGA | XP_005268905.1:p.Met750_Trp751insArg | |
| XM_005268849.1:c.2250_2251insAGA | XP_005268906.1:p.Met750_Trp751insArg | |
| XM_005268850.1:c.2118_2119insAGA | XP_005268907.1:p.Met706_Trp707insArg | |
| XM_011538286.1:c.2385_2386insAGA | XP_011536588.1:p.Met795_Trp796insArg | |
| XM_005268839.2:c.2724_2725insAGA | XP_005268896.1:p.Met908_Trp909insArg | |
| XM_005268840.2:c.2706_2707insAGA | XP_005268897.1:p.Met902_Trp903insArg | |
| XM_005268841.2:c.2724_2725insAGA | XP_005268898.1:p.Met908_Trp909insArg | |
| XM_005268842.2:c.2574_2575insAGA | XP_005268899.1:p.Met858_Trp859insArg | |
| XM_017019265.1:c.2334_2335insAGA | XP_016874754.1:p.Met778_Trp779insArg | |
| NM_001144996.2:c.2604_2605insAGA | NP_001138468.1:p.Met868_Trp869insArg | |
| NM_001367993.1:c.2265_2266insAGA | NP_001354922.1:p.Met755_Trp756insArg | |
| NM_001367994.1:c.1248_1249insAGA | NP_001354923.1:p.Met416_Trp417insArg | |
| NM_001374465.1:c.2574_2575insAGA | NP_001361394.1:p.Met858_Trp859insArg | |
| NM_002206.3:c.2592_2593insAGA MANE Select | NP_002197.2:p.Met864_Trp865insArg |