Linked Data
ClinVar Variation Id:
402917
dbSNP Id:
rs56944147
ExAC:
12:14834421 GA / G
gnomAD v2:
12-14834421-GA-G
gnomAD v3:
12-14681487-GA-G
gnomAD v4:
12-14681487-GA-G
MyVariant Identifiers:
chr12:g.14834422del (hg19)
chr12:g.14681489del (hg38)
chr12:g.14681488del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14681492del , CM000674.2:g.14681492del | GRCh38 |
| NC_000012.11:g.14834426del , CM000674.1:g.14834426del | GRCh37 |
| NC_000012.10:g.14725693del | NCBI36 |
| NG_052021.1:g.20098del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261170.5:c.612-11del (GUCY2C) MANE Select | ENSP00000261170.3:n.612-11del | |
| ENST00000261170.4:c.612-11del (GUCY2C) | ENSP00000261170.3:n.612-11del | |
| ENST00000535803.1:n.739-11del (GUCY2C) | ||
| NM_004963.3:c.612-11del (GUCY2C) | NP_004954.2:n.612-11del | |
| XM_011520631.1:c.366-11del (GUCY2C) | XP_011518933.1:n.366-11del | |
| XM_011520631.2:c.366-11del (GUCY2C) | XP_011518933.1:n.366-11del | |
| XM_024448858.1:c.-762+9178del (C12orf60) | XP_024304626.1:n.-762+9178del | |
| XM_024448859.1:c.-762+9178del (C12orf60) | XP_024304627.1:n.-762+9178del | |
| XR_001748595.1:n.904+9178del (C12orf60) | ||
| XR_001748597.1:n.701-36543del (C12orf60) | ||
| NM_004963.4:c.612-11del (GUCY2C) MANE Select | NP_004954.2:n.612-11del |