Linked Data
dbSNP Id:
rs1600734030
gnomAD v3:
20-61531766-T-TCAGCCTGA
gnomAD v4:
20-61531766-T-TCAGCCTGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61531768_61531775dup , CM000682.2:g.61531768_61531775dup | GRCh38 |
| NC_000020.10:g.60106824_60106831dup , CM000682.1:g.60106824_60106831dup | GRCh37 |
| NC_000020.9:g.59540219_59540226dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614565.5:c.170-211795_170-211788dup MANE Select | ENSP00000484928.1:n.170-211795_170-211788... | |
| ENST00000614565.4:c.170-211795_170-211788dup | ENSP00000484928.1:n.170-211795_170-211788... | |
| NM_001252338.2:c.58+32276_58+32283dup | NP_001239267.1:n.58+32276_58+32283dup | |
| NM_001794.4:c.170-211795_170-211788dup | NP_001785.2:n.170-211795_170-211788dup | |
| NM_001794.5:c.170-211795_170-211788dup MANE Select | NP_001785.2:n.170-211795_170-211788dup |