Linked Data
dbSNP Id:
rs2077747746
gnomAD v3:
11-108147582-T-TTTTTCTTGGTAACCTTGAAAA
gnomAD v4:
11-108147582-T-TTTTTCTTGGTAACCTTGAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108147583_108147603dup , CM000673.2:g.108147583_108147603dup | GRCh38 |
| NC_000011.9:g.108018310_108018330dup , CM000673.1:g.108018310_108018330dup | GRCh37 |
| NC_000011.8:g.107523520_107523540dup | NCBI36 |
| NG_009888.1:g.31053_31073dup | |
| NG_009888.2:g.35879_35899dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.8:c.*193_*213dup | ENSP00000265838.4:n.*193_*213dup | |
| NM_000019.3:c.*193_*213dup | NP_000010.1:n.*193_*213dup | |
| XM_006718834.2:c.*193_*213dup | XP_006718897.1:n.*193_*213dup | |
| XM_006718835.2:c.*193_*213dup | XP_006718898.1:n.*193_*213dup | |
| XM_017017682.2:c.*193_*213dup | XP_016873171.1:n.*193_*213dup | |
| XM_017017683.2:c.*193_*213dup | XP_016873172.1:n.*193_*213dup |