Linked Data
dbSNP Id:
rs71143240
gnomAD v2:
17-56358481-C-CTTTTT
gnomAD v3:
17-58281120-C-CTTTTT
gnomAD v4:
17-58281120-C-CTTTTT
MyVariant Identifiers:
chr17:g.56358481_56358482insTTTTT (hg19)
chr17:g.58281120_58281121insTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58281134_58281138dup , CM000679.2:g.58281134_58281138dup | GRCh38 |
| NC_000017.10:g.56358495_56358499dup , CM000679.1:g.56358495_56358499dup | GRCh37 |
| NC_000017.9:g.53713494_53713498dup | NCBI36 |
| NG_009629.1:g.4811_4815dup , LRG_84:g.4811_4815dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011524821.1:c.71-56_71-52dup | XP_011523123.1:n.71-56_71-52dup | |
| XM_011524823.1:c.71-56_71-52dup | XP_011523125.1:n.71-56_71-52dup |