Linked Data
ClinVar Variation Id:
219128
ClinVar RCV Id:
RCV000203517
dbSNP Id:
rs864321687
ExAC:
12:69109513 CAGAAG / C
gnomAD v2:
12-69109513-CAGAAG-C
gnomAD v3:
12-68715733-CAGAAG-C
gnomAD v4:
12-68715733-CAGAAG-C
MyVariant Identifiers:
chr12:g.69109516_69109520del (hg19)
chr12:g.69109514_69109518del (hg19)
chr12:g.68715736_68715740del (hg38)
chr12:g.68715734_68715738del (hg38)
PubMed:
PMID:26411495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68715736_68715740del , CM000674.2:g.68715736_68715740del | GRCh38 |
| NC_000012.11:g.69109516_69109520del , CM000674.1:g.69109516_69109520del | GRCh37 |
| NC_000012.10:g.67395783_67395787del | NCBI36 |
| NG_046600.2:g.33786_33790del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229179.9:c.1079_1083del MANE Select | ENSP00000229179.4:p.Glu360GlyfsTer6 | |
| ENST00000229179.8:c.1079_1083del | ENSP00000229179.4:p.Glu360GlyfsTer6 | |
| ENST00000378905.6:c.626_630del | ENSP00000368185.2:p.Glu209GlyfsTer6 | |
| ENST00000535718.5:c.*622_*626del | ENSP00000445567.1:n.*622_*626del | |
| ENST00000539906.5:c.992_996del | ENSP00000441448.1:p.Glu331GlyfsTer6 | |
| NM_020401.2:c.1079_1083del | NP_065134.1:p.Glu360GlyfsTer6 | |
| XM_005269037.2:c.1079_1083del | XP_005269094.1:p.Glu360GlyfsTer6 | |
| XM_011538576.1:c.992_996del | XP_011536878.1:p.Glu331GlyfsTer6 | |
| NM_001330192.1:c.992_996del | NP_001317121.1:p.Glu331GlyfsTer6 | |
| NM_020401.3:c.1079_1083del | NP_065134.1:p.Glu360GlyfsTer6 | |
| XM_005269037.4:c.1079_1083del | XP_005269094.1:p.Glu360GlyfsTer6 | |
| NM_020401.4:c.1079_1083del MANE Select | NP_065134.1:p.Glu360GlyfsTer6 | |
| NM_001330192.2:c.992_996del | NP_001317121.1:p.Glu331GlyfsTer6 |