Linked Data
dbSNP Id:
rs755227782
gnomAD v2:
14-65541603-A-ACATC
gnomAD v3:
14-65074885-A-ACATC
gnomAD v4:
14-65074885-A-ACATC
MyVariant Identifiers:
chr14:g.65541603_65541604insCATC (hg19)
chr14:g.65074885_65074886insCATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65074887_65074890dup , CM000676.2:g.65074887_65074890dup | GRCh38 |
| NC_000014.8:g.65541605_65541608dup , CM000676.1:g.65541605_65541608dup | GRCh37 |
| NC_000014.7:g.64611358_64611361dup | NCBI36 |
| NG_029830.1:g.32621_32624dup , LRG_530:g.32621_32624dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651648.1:c.145-4520_145-4517dup | ENSP00000498863.1:n.145-4520_145-4517dup | |
| ENST00000341653.6:c.171+18819_171+18822dup | ENSP00000342482.2:n.171+18819_171+18822dup | |
| NM_001271069.1:c.144+18819_144+18822dup | NP_001257998.1:n.144+18819_144+18822dup | |
| NM_197957.3:c.171+18819_171+18822dup | NP_932061.1:n.171+18819_171+18822dup | |
| NM_001271069.2:c.144+18819_144+18822dup | NP_001257998.1:n.144+18819_144+18822dup | |
| NM_197957.4:c.171+18819_171+18822dup | NP_932061.1:n.171+18819_171+18822dup |