Linked Data
ClinVar Variation Id:
402212
ClinVar RCV Id:
RCV000454351
dbSNP Id:
rs1060499775
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55707550_55707551insT , CM000674.2:g.55707550_55707551insT | GRCh38 |
| NC_000012.11:g.56101334_56101335insT , CM000674.1:g.56101334_56101335insT | GRCh37 |
| NC_000012.10:g.54387601_54387602insT | NCBI36 |
| NG_012343.1:g.9755_9756insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553893.6:c.65-4373_65-4372insA | ENSP00000452467.1:n.65-4373_65-4372insA | |
| ENST00000557257.2:c.-61+4512_-61+4513insA | ENSP00000450578.2:n.-61+4512_-61+4513insA... | |
| ENST00000557555.3:c.132_133insA | ENSP00000451039.3:p.Glu45ArgfsTer? | |
| ENST00000686981.1:c.65-4373_65-4372insA | ENSP00000510795.1:n.65-4373_65-4372insA | |
| ENST00000691052.1:c.132_133insA | ENSP00000508886.1:p.Glu45ArgfsTer? | |
| ENST00000691973.1:c.132_133insA | ENSP00000509141.1:p.Glu45ArgfsTer? | |
| ENST00000257879.11:c.132_133insA MANE Select | ENSP00000257879.7:p.Glu45ArgfsTer? | |
| ENST00000553804.6:c.132_133insA | ENSP00000452120.1:p.Glu45ArgfsTer? | |
| ENST00000257879.10:c.132_133insA | ENSP00000257879.6:p.Glu45ArgfsTer? | |
| ENST00000347027.10:c.132_133insA | ENSP00000343009.6:p.Glu45ArgfsTer? | |
| ENST00000452168.6:c.85+4512_85+4513insA | ENSP00000393844.2:n.85+4512_85+4513insA | |
| ENST00000553276.1:n.142+4512_142+4513insA | ||
| ENST00000553737.5:n.191+4512_191+4513insA | ||
| ENST00000553804.5:c.132_133insA | ENSP00000452120.1:p.Glu45ArgfsTer? | |
| ENST00000553893.5:c.65-4373_65-4372insA | ENSP00000452467.1:n.65-4373_65-4372insA | |
| ENST00000554359.1:n.163_164insA | ||
| ENST00000554724.5:c.24-4373_24-4372insA | ||
| ENST00000555687.5:c.86-4373_86-4372insA | ENSP00000451311.1:n.86-4373_86-4372insA | |
| ENST00000555728.5:c.132_133insA | ENSP00000452387.1:p.Glu45ArgfsTer? | |
| ENST00000555809.1:c.65-4373_65-4372insA | ENSP00000450798.1:n.65-4373_65-4372insA | |
| ENST00000556273.5:c.64+4512_64+4513insA | ENSP00000450679.1:n.64+4512_64+4513insA | |
| ENST00000556371.1:n.121+4512_121+4513insA | ||
| ENST00000557257.1:c.-61+4512_-61+4513insA | ENSP00000450578.1:n.-61+4512_-61+4513insA... | |
| NM_001144996.1:c.132_133insA | NP_001138468.1:p.Glu45ArgfsTer? | |
| NM_001144997.1:c.85+4512_85+4513insA | NP_001138469.1:n.85+4512_85+4513insA | |
| NM_002206.2:c.132_133insA | NP_002197.2:p.Glu45ArgfsTer? | |
| XM_005268839.1:c.132_133insA | XP_005268896.1:p.Glu45ArgfsTer? | |
| XM_005268840.1:c.132_133insA | XP_005268897.1:p.Glu45ArgfsTer? | |
| XM_005268841.1:c.132_133insA | XP_005268898.1:p.Glu45ArgfsTer? | |
| XM_005268842.1:c.132_133insA | XP_005268899.1:p.Glu45ArgfsTer? | |
| XM_005268844.1:c.-133-4373_-133-4372insA | XP_005268901.1:n.-133-4373_-133-4372insA | |
| XM_005268845.1:c.-133-4373_-133-4372insA | XP_005268902.1:n.-133-4373_-133-4372insA | |
| XM_005268846.1:c.-133-4373_-133-4372insA | XP_005268903.1:n.-133-4373_-133-4372insA | |
| XM_005268847.1:c.-61+4512_-61+4513insA | XP_005268904.1:n.-61+4512_-61+4513insA | |
| XM_005268848.1:c.-61+4512_-61+4513insA | XP_005268905.1:n.-61+4512_-61+4513insA | |
| XM_005268849.1:c.-61+4512_-61+4513insA | XP_005268906.1:n.-61+4512_-61+4513insA | |
| XM_005268850.1:c.-61+4512_-61+4513insA | XP_005268907.1:n.-61+4512_-61+4513insA | |
| XM_011538286.1:c.-133-4373_-133-4372insA | XP_011536588.1:n.-133-4373_-133-4372insA | |
| XM_011538287.1:c.132_133insA | XP_011536589.1:p.Glu45ArgfsTer? | |
| XM_005268839.2:c.132_133insA | XP_005268896.1:p.Glu45ArgfsTer? | |
| XM_005268840.2:c.132_133insA | XP_005268897.1:p.Glu45ArgfsTer? | |
| XM_005268841.2:c.132_133insA | XP_005268898.1:p.Glu45ArgfsTer? | |
| XM_005268842.2:c.132_133insA | XP_005268899.1:p.Glu45ArgfsTer? | |
| NM_001144996.2:c.132_133insA | NP_001138468.1:p.Glu45ArgfsTer? | |
| NM_001367993.1:c.-133-4373_-133-4372insA | NP_001354922.1:n.-133-4373_-133-4372insA | |
| NM_001367994.1:c.-1041_-1040insA | NP_001354923.1:n.-1041_-1040insA | |
| NM_001374465.1:c.132_133insA | NP_001361394.1:p.Glu45ArgfsTer? | |
| NM_002206.3:c.132_133insA MANE Select | NP_002197.2:p.Glu45ArgfsTer? |