Linked Data
dbSNP Id:
rs1365199323
gnomAD v2:
12-107395067-C-CA
gnomAD v4:
12-107001289-C-CA
MyVariant Identifiers:
chr12:g.107395067_107395068insA (hg19)
chr12:g.107001289_107001290insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001292dup , CM000674.2:g.107001292dup | GRCh38 |
| NC_000012.11:g.107395070dup , CM000674.1:g.107395070dup | GRCh37 |
| NC_000012.10:g.105919200dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.674dup MANE Select | ENSP00000008527.5:p.Leu225PhefsTer11 | |
| ENST00000008527.9:c.674dup | ENSP00000008527.5:p.Leu225PhefsTer11 | |
| ENST00000546722.1:n.167dup | ||
| ENST00000552790.5:n.1233dup | ||
| NM_004075.4:c.674dup | NP_004066.1:p.Leu225PhefsTer11 | |
| XM_011537939.1:c.590dup | XP_011536241.1:p.Leu197PhefsTer11 | |
| XM_017018832.2:c.590dup | XP_016874321.1:p.Leu197PhefsTer11 | |
| XM_024448844.1:c.674dup | XP_024304612.1:p.Leu225PhefsTer11 | |
| XM_024448845.1:c.590dup | XP_024304613.1:p.Leu197PhefsTer11 | |
| NM_004075.5:c.674dup MANE Select | NP_004066.1:p.Leu225PhefsTer11 |