Linked Data
ClinVar Variation Id:
39607
ClinVar RCV Id:
RCV000032807
dbSNP Id:
rs397514546
gnomAD v2:
12-64174905-GA-G
gnomAD v4:
12-63781125-GA-G
MyVariant Identifiers:
chr12:g.64174908del (hg19)
chr12:g.64174906del (hg19)
chr12:g.63781128del (hg38)
PubMed:
PMID:23217329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63781128del , CM000674.2:g.63781128del | GRCh38 |
| NC_000012.11:g.64174908del , CM000674.1:g.64174908del | GRCh37 |
| NC_000012.10:g.62461175del | NCBI36 |
| NG_033244.1:g.6326del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537373.6:c.*14del | ENSP00000440280.2:n.*14del | |
| ENST00000685296.1:c.279del | ENSP00000508796.1:p.Gly94GlufsTer? | |
| ENST00000687087.1:c.279del | ENSP00000510657.1:p.Gly94GlufsTer? | |
| ENST00000690060.1:c.279del | ENSP00000508435.1:p.Gly94GlufsTer? | |
| ENST00000691840.1:n.1015del | ||
| ENST00000692910.1:c.*14del | ENSP00000509763.1:n.*14del | |
| ENST00000693579.1:c.*14del | ENSP00000510692.1:n.*14del | |
| ENST00000261234.11:c.279del MANE Select | ENSP00000261234.6:p.Gly94GlufsTer? | |
| ENST00000261234.10:c.279del | ENSP00000261234.6:p.Gly94GlufsTer? | |
| ENST00000536219.5:n.398del | ||
| ENST00000537373.5:c.-502del | ENSP00000440280.1:n.-502del | |
| ENST00000537982.5:n.456del | ||
| ENST00000543342.5:c.279del | ENSP00000440845.1:p.Gly94GlufsTer? | |
| NM_001278237.1:c.-502del | NP_001265166.1:n.-502del | |
| NM_014254.2:c.279del | NP_055069.1:p.Gly94GlufsTer? | |
| XM_005268562.2:c.-195del | XP_005268619.1:n.-195del | |
| XM_005268563.2:c.-195del | XP_005268620.1:n.-195del | |
| XM_006719196.2:c.279del | XP_006719259.1:p.Gly94GlufsTer? | |
| XM_005268562.3:c.-195del | XP_005268619.1:n.-195del | |
| XM_005268563.3:c.-195del | XP_005268620.1:n.-195del | |
| XM_017018686.1:c.-546del | XP_016874175.1:n.-546del | |
| XM_017018687.1:c.-710del | XP_016874176.1:n.-710del | |
| XR_001748549.1:n.409del | ||
| NM_014254.3:c.279del MANE Select | NP_055069.1:p.Gly94GlufsTer? | |
| NM_001278237.2:c.-502del | NP_001265166.1:n.-502del |