Linked Data
dbSNP Id:
rs1322547479
gnomAD v3:
11-72721945-A-AGCCTGGGTCCC
gnomAD v4:
11-72721945-A-AGCCTGGGTCCC
MyVariant Identifiers:
chr11:g.72432990_72432991insGCCTGGGTCCC (hg19)
chr11:g.72721945_72721946insGCCTGGGTCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72721953_72721963dup , CM000673.2:g.72721953_72721963dup | GRCh38 |
| NC_000011.9:g.72432998_72433008dup , CM000673.1:g.72432998_72433008dup | GRCh37 |
| NC_000011.8:g.72110646_72110656dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393609.8:c.509+4664_509+4674dup MANE Select | ENSP00000377233.3:n.509+4664_509+4674dup | |
| ENST00000334211.12:c.-333_-323dup | ENSP00000335506.8:n.-333_-323dup | |
| ENST00000359373.9:c.509+4664_509+4674dup | ENSP00000352332.5:n.509+4664_509+4674dup | |
| ENST00000393609.7:c.509+4664_509+4674dup | ENSP00000377233.3:n.509+4664_509+4674dup | |
| ENST00000426523.5:c.-333_-323dup | ENSP00000392264.1:n.-333_-323dup | |
| ENST00000429686.5:c.-333_-323dup | ENSP00000403127.1:n.-333_-323dup | |
| ENST00000465814.5:n.133_143dup | ||
| NM_001040118.2:c.509+4664_509+4674dup | NP_001035207.1:n.509+4664_509+4674dup | |
| NM_001135190.1:c.-333_-323dup | NP_001128662.1:n.-333_-323dup | |
| NM_015242.4:c.-333_-323dup | NP_056057.2:n.-333_-323dup | |
| NM_001369489.1:c.-333_-323dup | NP_001356418.1:n.-333_-323dup | |
| NR_161388.1:n.385_395dup | ||
| NM_001040118.3:c.509+4664_509+4674dup MANE Select | NP_001035207.1:n.509+4664_509+4674dup | |
| NM_001135190.2:c.-333_-323dup | NP_001128662.1:n.-333_-323dup | |
| NM_015242.5:c.-333_-323dup | NP_056057.2:n.-333_-323dup |