Linked Data
ClinVar Variation Id:
1089820
ClinVar RCV Id:
RCV001408777
dbSNP Id:
rs768133889
ExAC:
12:32974280 C / CAATA
gnomAD v2:
12-32974280-C-CAATA
gnomAD v4:
12-32821346-C-CAATA
MyVariant Identifiers:
chr12:g.32974280_32974281insAATA (hg19)
chr12:g.32821346_32821347insAATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32821347_32821350dup , CM000674.2:g.32821347_32821350dup | GRCh38 |
| NC_000012.11:g.32974281_32974284dup , CM000674.1:g.32974281_32974284dup | GRCh37 |
| NC_000012.10:g.32865548_32865551dup | NCBI36 |
| NG_009000.1:g.80497_80500dup , LRG_398:g.80497_80500dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.516+6_516+9dup | ||
| ENST00000700559.2:c.2013+6_2013+9dup | ENSP00000515065.2:n.2013+6_2013+9dup | |
| ENST00000700563.2:c.2013+6_2013+9dup | ENSP00000515066.2:n.2013+6_2013+9dup | |
| ENST00000546498.2:n.700+6_700+9dup | ||
| ENST00000549461.2:n.552+6_552+9dup | ||
| ENST00000700555.1:c.444+6_444+9dup | ENSP00000515062.1:n.444+6_444+9dup | |
| ENST00000700556.1:c.484+6_484+9dup | ||
| ENST00000700558.1:n.227+6_227+9dup | ||
| ENST00000700559.1:c.1228+6_1228+9dup | ||
| ENST00000700560.1:n.1228+6_1228+9dup | ||
| ENST00000700561.1:n.1354+6_1354+9dup | ||
| ENST00000700562.1:n.551+6_551+9dup | ||
| ENST00000700563.1:c.1967+6_1967+9dup | ||
| ENST00000700564.1:n.2023_2026dup | ||
| ENST00000070846.11:c.2145+6_2145+9dup | ENSP00000070846.6:n.2145+6_2145+9dup | |
| ENST00000340811.9:c.2013+6_2013+9dup MANE Select | ENSP00000342800.5:n.2013+6_2013+9dup | |
| ENST00000070846.10:c.2145+6_2145+9dup | ENSP00000070846.6:n.2145+6_2145+9dup | |
| ENST00000340811.8:c.2013+6_2013+9dup | ENSP00000342800.4:n.2013+6_2013+9dup | |
| ENST00000549461.1:n.459+6_459+9dup | ||
| ENST00000552612.5:n.440_443dup | ||
| ENST00000613243.1:c.2145+6_2145+9dup | ENSP00000478295.1:n.2145+6_2145+9dup | |
| NM_001005242.2:c.2013+6_2013+9dup | NP_001005242.2:n.2013+6_2013+9dup | |
| NM_004572.3:c.2145+6_2145+9dup , LRG_398t1:c.2145+6_2145+9dup | NP_004563.2:n.2145+6_2145+9dup | |
| NM_001005242.3:c.2013+6_2013+9dup MANE Select | NP_001005242.2:n.2013+6_2013+9dup | |
| NM_004572.4:c.2145+6_2145+9dup | NP_004563.2:n.2145+6_2145+9dup |