Linked Data
ClinVar Variation Id:
92841
ClinVar RCV Id:
RCV000176032
dbSNP Id:
rs398123333
MyVariant Identifiers:
chr13:g.49033930_49033942delinsCAC (hg19)
chr13:g.48459794_48459806delinsCAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459794_48459806delinsCAC , CM000675.2:g.48459794_48459806delinsCAC | GRCh38 |
| NC_000013.10:g.49033930_49033942delinsCAC , CM000675.1:g.49033930_49033942delinsCAC | GRCh37 |
| NC_000013.9:g.47931931_47931943delinsCAC | NCBI36 |
| NG_009009.1:g.161048_161060delinsCAC , LRG_517:g.161048_161060delinsCAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.2067_2079delinsCAC MANE Select | ENSP00000267163.4:p.Gln689HisfsTer4 | |
| ENST00000643064.1:c.194+78351_194+78363delinsCAC | ||
| ENST00000650461.1:c.2067_2079delinsCAC | ENSP00000497193.1:p.Gln689HisfsTer4 | |
| ENST00000267163.4:c.2067_2079delinsCAC | ENSP00000267163.4:p.Gln689HisfsTer4 | |
| NM_000321.2:c.2067_2079delinsCAC , LRG_517t1:c.2067_2079delinsCAC | NP_000312.2:p.Gln689HisfsTer4 | |
| XM_011535171.1:c.1806_1818delinsCAC | XP_011533473.1:p.Gln602HisfsTer4 | |
| XM_011535171.2:c.1806_1818delinsCAC | XP_011533473.1:p.Gln602HisfsTer4 | |
| NM_000321.3:c.2067_2079delinsCAC MANE Select | NP_000312.2:p.Gln689HisfsTer4 |