Linked Data
dbSNP Id:
rs1568406971
gnomAD v2:
19-2274948-A-AAAAAG
gnomAD v3:
19-2274949-A-AAAAAG
gnomAD v4:
19-2274949-A-AAAAAG
MyVariant Identifiers:
chr19:g.2274948_2274949insAAAAG (hg19)
chr19:g.2274949_2274950insAAAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274954_2274958dup , CM000681.2:g.2274954_2274958dup | GRCh38 |
| NC_000019.9:g.2274953_2274957dup , CM000681.1:g.2274953_2274957dup | GRCh37 |
| NC_000019.8:g.2225953_2225957dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*726_*730dup MANE Select | ENSP00000345102.3:n.*726_*730dup | |
| ENST00000342063.4:c.*726_*730dup | ENSP00000345102.3:n.*726_*730dup | |
| ENST00000621615.1:c.146+5210_146+5214dup | ENSP00000481965.1:n.146+5210_146+5214dup | |
| NM_198532.2:c.*726_*730dup | NP_940934.1:n.*726_*730dup | |
| NM_198532.3:c.*726_*730dup MANE Select | NP_940934.1:n.*726_*730dup |