Linked Data
dbSNP Id:
rs544531223
gnomAD v2:
5-131954239-C-CTTGTATTT
gnomAD v3:
5-132618547-C-CTTGTATTT
gnomAD v4:
5-132618547-C-CTTGTATTT
MyVariant Identifiers:
chr5:g.131954239_131954240insTTGTATTT (hg19)
chr5:g.132618547_132618548insTTGTATTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132618550_132618557dup , CM000667.2:g.132618550_132618557dup | GRCh38 |
| NC_000005.9:g.131954242_131954249dup , CM000667.1:g.131954242_131954249dup | GRCh37 |
| NC_000005.8:g.131982141_131982148dup | NCBI36 |
| NG_021151.1:g.66627_66634dup | |
| NG_021151.2:g.66574_66581dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3389+256_3389+263dup MANE Select | ENSP00000368100.4:n.3389+256_3389+263dup | |
| ENST00000638452.2:c.3092+256_3092+263dup | ENSP00000492349.2:n.3092+256_3092+263dup | |
| ENST00000638504.1:n.2997+256_2997+263dup | ||
| ENST00000638568.2:c.3092+256_3092+263dup | ENSP00000491158.2:n.3092+256_3092+263dup | |
| ENST00000639899.1:n.3908+256_3908+263dup | ||
| ENST00000640655.2:c.3092+256_3092+263dup | ENSP00000491596.2:n.3092+256_3092+263dup | |
| ENST00000651249.1:c.225+256_225+263dup | ||
| ENST00000378823.7:c.3389+256_3389+263dup | ENSP00000368100.4:n.3389+256_3389+263dup | |
| ENST00000455677.1:c.24+256_24+263dup | ||
| ENST00000533482.5:c.*3015+256_*3015+263dup | ENSP00000431225.1:n.*3015+256_*3015+263dup | |
| NM_005732.3:c.3389+256_3389+263dup | NP_005723.2:n.3389+256_3389+263dup | |
| NM_005732.4:c.3389+256_3389+263dup MANE Select | NP_005723.2:n.3389+256_3389+263dup |