Linked Data
ClinVar Variation Id:
403639
ClinVar RCV Id:
RCV000454414
dbSNP Id:
rs1555805127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113268_11113363dup , CM000681.2:g.11113268_11113363dup | GRCh38 |
| NC_000019.9:g.11223944_11224039dup , CM000681.1:g.11223944_11224039dup | GRCh37 |
| NC_000019.8:g.11084944_11085039dup | NCBI36 |
| NG_009060.1:g.28888_28983dup , LRG_274:g.28888_28983dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1445-10_1530dup | ||
| ENST00000559340.2:c.1187-10_1272dup | ||
| ENST00000560467.2:c.1067-10_1152dup | ||
| ENST00000558518.6:c.1187-10_1272dup | ||
| ENST00000252444.9:c.1441-10_1526dup | ||
| ENST00000455727.6:c.683-10_768dup | ||
| ENST00000535915.5:c.1064-10_1149dup | ||
| ENST00000545707.5:c.806-10_891dup | ||
| ENST00000557933.5:c.1187-10_1272dup | ||
| ENST00000558013.5:c.1187-10_1272dup | ||
| ENST00000558518.5:c.1187-10_1272dup | ||
| ENST00000560173.1:n.186-10_271dup | ||
| ENST00000560467.1:c.667-10_752dup | ||
| NM_000527.4:c.1187-10_1272dup , LRG_274t1:c.1187-10_1272dup | ||
| NM_001195798.1:c.1187-10_1272dup | ||
| NM_001195799.1:c.1064-10_1149dup | ||
| NM_001195800.1:c.683-10_768dup | ||
| NM_001195803.1:c.806-10_891dup | ||
| XM_011528010.1:c.1187-10_1272dup | ||
| XM_011528011.1:c.806-10_891dup | ||
| XR_244074.2:n.1337-10_1422dup | ||
| XM_011528010.2:c.1187-10_1272dup | ||
| XR_001753685.2:n.1304-10_1389dup | ||
| XR_001753686.2:n.1304-10_1389dup | ||
| NM_000527.5:c.1187-10_1272dup | ||
| NM_001195798.2:c.1187-10_1272dup | ||
| NM_001195799.2:c.1064-10_1149dup | ||
| NM_001195800.2:c.683-10_768dup | ||
| NM_001195803.2:c.806-10_891dup |