Linked Data
dbSNP Id:
rs1677427346
gnomAD v3:
2-85663657-G-GGCTCACTTGGGCCAGCGC
gnomAD v4:
2-85663657-G-GGCTCACTTGGGCCAGCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85663658_85663675dup , CM000664.2:g.85663658_85663675dup | GRCh38 |
| NC_000002.11:g.85890781_85890798dup , CM000664.1:g.85890781_85890798dup | GRCh37 |
| NC_000002.10:g.85744292_85744309dup | NCBI36 |
| NG_016967.1:g.10067_10084dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.845_856+6dup | ||
| ENST00000519937.7:c.845_856+6dup | ||
| ENST00000393822.7:c.845_856+6dup | ||
| ENST00000409383.5:c.881_892+6dup | ||
| ENST00000428225.5:c.834_845+6dup | ||
| ENST00000519937.6:c.845_856+6dup | ||
| NM_000542.3:c.881_892+6dup | ||
| NM_198843.2:c.881_892+6dup | ||
| XM_005264487.2:c.881_892+6dup | ||
| XM_005264488.2:c.845_856+6dup | ||
| XM_005264490.3:c.845_856+6dup | ||
| XM_005264488.4:c.845_856+6dup | ||
| XM_005264490.4:c.845_856+6dup | ||
| NM_000542.4:c.845_856+6dup | ||
| NM_001367281.1:c.845_856+6dup | ||
| NM_198843.3:c.845_856+6dup | ||
| NM_000542.5:c.845_856+6dup |