Linked Data
dbSNP Id:
rs747792072
ExAC:
10:43595864 C / CCTT
gnomAD v2:
10-43595864-C-CCTT
gnomAD v3:
10-43100416-C-CCTT
gnomAD v4:
10-43100416-C-CCTT
MyVariant Identifiers:
chr10:g.43595864_43595865insCTT (hg19)
chr10:g.43100416_43100417insCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43100417_43100419dup , CM000672.2:g.43100417_43100419dup | GRCh38 |
| NC_000010.10:g.43595865_43595867dup , CM000672.1:g.43595865_43595867dup | GRCh37 |
| NC_000010.9:g.42915871_42915873dup | NCBI36 |
| NG_007489.1:g.28349_28351dup , LRG_518:g.28349_28351dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.74-42_74-40dup | ENSP00000480088.2:n.74-42_74-40dup | |
| ENST00000340058.6:c.74-42_74-40dup | ENSP00000344798.4:n.74-42_74-40dup | |
| ENST00000355710.8:c.74-42_74-40dup MANE Select | ENSP00000347942.3:n.74-42_74-40dup | |
| ENST00000671844.1:c.74-42_74-40dup | ENSP00000500541.1:n.74-42_74-40dup | |
| ENST00000672389.1:c.74-10790_74-10788dup | ENSP00000500252.1:n.74-10790_74-10788dup | |
| ENST00000340058.5:c.74-42_74-40dup | ENSP00000344798.4:n.74-42_74-40dup | |
| ENST00000355710.7:c.74-42_74-40dup | ENSP00000347942.3:n.74-42_74-40dup | |
| ENST00000498820.5:c.74-11682_74-11680dup | ENSP00000419080.1:n.74-11682_74-11680dup | |
| ENST00000615310.4:c.74-42_74-40dup | ENSP00000480088.1:n.74-42_74-40dup | |
| NM_020630.4:c.74-42_74-40dup , LRG_518t2:c.74-42_74-40dup | NP_065681.1:n.74-42_74-40dup | |
| NM_020975.4:c.74-42_74-40dup , LRG_518t1:c.74-42_74-40dup | NP_066124.1:n.74-42_74-40dup | |
| XM_011540027.1:c.74-42_74-40dup | XP_011538329.1:n.74-42_74-40dup | |
| NM_020630.5:c.74-42_74-40dup | NP_065681.1:n.74-42_74-40dup | |
| NM_020975.5:c.74-42_74-40dup | NP_066124.1:n.74-42_74-40dup | |
| NM_020975.6:c.74-42_74-40dup MANE Select | NP_066124.1:n.74-42_74-40dup | |
| NM_020630.6:c.74-42_74-40dup | NP_065681.1:n.74-42_74-40dup |