Linked Data
dbSNP Id:
rs747880366
ExAC:
19:10226143 A / ATGGAG
gnomAD v2:
19-10226143-A-ATGGAG
gnomAD v3:
19-10115467-A-ATGGAG
gnomAD v4:
19-10115467-A-ATGGAG
MyVariant Identifiers:
chr19:g.10226143_10226144insTGGAG (hg19)
chr19:g.10115467_10115468insTGGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115469_10115473dup , CM000681.2:g.10115469_10115473dup | GRCh38 |
| NC_000019.9:g.10226145_10226149dup , CM000681.1:g.10226145_10226149dup | GRCh37 |
| NC_000019.8:g.10087145_10087149dup | NCBI36 |
| NG_047007.1:g.8949_8953dup | |
| NG_051197.1:g.9453_9457dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.947+7_947+11dup MANE Select | ENSP00000253108.3:n.947+7_947+11dup | |
| ENST00000253108.8:c.947+7_947+11dup | ENSP00000253108.3:n.947+7_947+11dup | |
| ENST00000590158.1:n.966+7_966+11dup | ||
| ENST00000593054.5:c.341+7_341+11dup | ENSP00000467187.1:n.341+7_341+11dup | |
| NM_003755.3:c.947+7_947+11dup | NP_003746.2:n.947+7_947+11dup | |
| NM_003755.4:c.947+7_947+11dup | NP_003746.2:n.947+7_947+11dup | |
| NM_003755.5:c.947+7_947+11dup MANE Select | NP_003746.2:n.947+7_947+11dup |