Linked Data
dbSNP Id:
rs1194749298
gnomAD v2:
22-51135917-G-GGCGGGGC
gnomAD v3:
22-50697489-G-GGCGGGGC
gnomAD v4:
22-50697489-G-GGCGGGGC
MyVariant Identifiers:
chr22:g.51135917_51135918insGCGGGGC (hg19)
chr22:g.50697489_50697490insGCGGGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697498_50697504dup , CM000684.2:g.50697498_50697504dup | GRCh38 |
| NC_000022.10:g.51135926_51135932dup , CM000684.1:g.51135926_51135932dup | GRCh37 |
| NC_000022.9:g.49482792_49482798dup | NCBI36 |
| NG_008607.2:g.27857_27863dup | |
| NG_070230.1:g.33076_33082dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-66_948-60dup | ENSP00000489147.2:n.948-66_948-60dup | |
| ENST00000414786.7:n.1532-66_1532-60dup | ||
| ENST00000673971.2:c.1305-66_1305-60dup | ENSP00000501192.1:n.1305-66_1305-60dup | |
| ENST00000262795.6:c.948-66_948-60dup | ENSP00000489147.2:n.948-66_948-60dup | |
| ENST00000673971.1:c.1305-66_1305-60dup | ENSP00000501192.1:n.1305-66_1305-60dup | |
| ENST00000262795.5:c.1345-67_1345-61dup | ENSP00000489147.1:n.1345-67_1345-61dup | |
| ENST00000414786.6:n.1532-66_1532-60dup | ||
| ENST00000445220.5:c.1326-66_1326-60dup | ENSP00000489407.1:n.1326-66_1326-60dup |