Linked Data
dbSNP Id:
rs1475103613
gnomAD v3:
6-1610407-G-GGGGCGGC
gnomAD v4:
6-1610407-G-GGGGCGGC
MyVariant Identifiers:
chr6:g.1610642_1610643insGGGCGGC (hg19)
chr6:g.1610407_1610408insGGGCGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610416_1610422dup , CM000668.2:g.1610416_1610422dup | GRCh38 |
| NC_000006.11:g.1610651_1610657dup , CM000668.1:g.1610651_1610657dup | GRCh37 |
| NC_000006.10:g.1555650_1555656dup | NCBI36 |
| NG_009368.1:g.4971_4977dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645831.2:c.-30_-24dup MANE Select | ENSP00000493906.1:n.-30_-24dup | |
| ENST00000380874.3:c.-30_-24dup | ENSP00000370256.2:n.-30_-24dup | |
| NM_001453.3:c.-30_-24dup MANE Select | NP_001444.2:n.-30_-24dup |