Linked Data
ClinVar Variation Id:
425980
ClinVar RCV Id:
RCV000488667
dbSNP Id:
rs1085307379
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202555968_202555974del , CM000664.2:g.202555968_202555974del | GRCh38 |
| NC_000002.11:g.203420691_203420697del , CM000664.1:g.203420691_203420697del | GRCh37 |
| NC_000002.10:g.203128936_203128942del | NCBI36 |
| NG_009363.1:g.184642_184648del , LRG_712:g.184642_184648del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.2303_2309del MANE Select | ENSP00000363708.4:p.Glu768GlyfsTer2 | |
| ENST00000638587.1:c.2234_2240del | ENSP00000491062.1:n.2234_2240del | |
| ENST00000374574.2:c.1586+3080_1586+3086del | ENSP00000363702.2:n.1586+3080_1586+3086de... | |
| ENST00000374580.8:c.2303_2309del | ENSP00000363708.4:p.Glu768GlyfsTer2 | |
| NM_001204.6:c.2303_2309del , LRG_712t1:c.2303_2309del | NP_001195.2:p.Glu768GlyfsTer2 | |
| XM_011511687.1:c.2303_2309del | XP_011509989.1:p.Glu768GlyfsTer2 | |
| XM_011511688.1:c.1586+3080_1586+3086del | XP_011509990.1:n.1586+3080_1586+3086del | |
| NM_001204.7:c.2303_2309del MANE Select | NP_001195.2:p.Glu768GlyfsTer2 |