Linked Data
dbSNP Id:
rs1323839377
gnomAD v3:
7-148807262-A-ATTAGT
gnomAD v4:
7-148807262-A-ATTAGT
MyVariant Identifiers:
chr7:g.148504354_148504355insTTAGT (hg19)
chr7:g.148807262_148807263insTTAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807264_148807268dup , CM000669.2:g.148807264_148807268dup | GRCh38 |
| NC_000007.13:g.148504356_148504360dup , CM000669.1:g.148504356_148504360dup | GRCh37 |
| NC_000007.12:g.148135289_148135293dup | NCBI36 |
| NG_032043.1:g.82083_82087dup , LRG_531:g.82083_82087dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1531_*1535dup | ENSP00000507503.1:n.*1531_*1535dup | |
| XR_928101.1:n.515+2179_515+2183dup | ||
| XR_928102.1:n.722+2179_722+2183dup |