Linked Data
dbSNP Id:
rs1438943095
gnomAD v2:
11-72433024-G-GCCTGGCC
gnomAD v3:
11-72721979-G-GCCTGGCC
gnomAD v4:
11-72721979-G-GCCTGGCC
MyVariant Identifiers:
chr11:g.72433024_72433025insCCTGGCC (hg19)
chr11:g.72721979_72721980insCCTGGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72721992_72721998dup , CM000673.2:g.72721992_72721998dup | GRCh38 |
| NC_000011.9:g.72433037_72433043dup , CM000673.1:g.72433037_72433043dup | GRCh37 |
| NC_000011.8:g.72110685_72110691dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393609.8:c.509+4634_509+4640dup MANE Select | ENSP00000377233.3:n.509+4634_509+4640dup | |
| ENST00000334211.12:c.-363_-357dup | ENSP00000335506.8:n.-363_-357dup | |
| ENST00000359373.9:c.509+4634_509+4640dup | ENSP00000352332.5:n.509+4634_509+4640dup | |
| ENST00000393609.7:c.509+4634_509+4640dup | ENSP00000377233.3:n.509+4634_509+4640dup | |
| ENST00000426523.5:c.-363_-357dup | ENSP00000392264.1:n.-363_-357dup | |
| ENST00000429686.5:c.-363_-357dup | ENSP00000403127.1:n.-363_-357dup | |
| ENST00000465814.5:n.103_109dup | ||
| NM_001040118.2:c.509+4634_509+4640dup | NP_001035207.1:n.509+4634_509+4640dup | |
| NM_001135190.1:c.-363_-357dup | NP_001128662.1:n.-363_-357dup | |
| NM_015242.4:c.-363_-357dup | NP_056057.2:n.-363_-357dup | |
| NM_001369489.1:c.-363_-357dup | NP_001356418.1:n.-363_-357dup | |
| NR_161388.1:n.355_361dup | ||
| NM_001040118.3:c.509+4634_509+4640dup MANE Select | NP_001035207.1:n.509+4634_509+4640dup | |
| NM_001135190.2:c.-363_-357dup | NP_001128662.1:n.-363_-357dup | |
| NM_015242.5:c.-363_-357dup | NP_056057.2:n.-363_-357dup |