Linked Data
ClinVar Variation Id:
251620
dbSNP Id:
rs879254770
gnomAD v2:
19-11221440-ATGCGAAGG-A
gnomAD v3:
19-11110764-ATGCGAAGG-A
gnomAD v4:
19-11110764-ATGCGAAGG-A
MyVariant Identifiers:
chr19:g.11221443_11221450del (hg19)
chr19:g.11221441_11221448del (hg19)
chr19:g.11110767_11110774del (hg38)
chr19:g.11110765_11110772del (hg38)
PubMed:
PMID:16389549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110767_11110774del , CM000681.2:g.11110767_11110774del | GRCh38 |
| NC_000019.9:g.11221443_11221450del , CM000681.1:g.11221443_11221450del | GRCh37 |
| NC_000019.8:g.11082443_11082450del | NCBI36 |
| NG_009060.1:g.26387_26394del , LRG_274:g.26387_26394del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1314_1318+3del | ||
| ENST00000559340.2:c.1056_1060+3del | ||
| ENST00000560467.2:c.941-747_941-740del | ENSP00000453513.2:n.941-747_941-740del | |
| ENST00000558518.6:c.1056_1060+3del | ||
| ENST00000252444.9:c.1310_1314+3del | ||
| ENST00000455727.6:c.552_556+3del | ||
| ENST00000535915.5:c.933_937+3del | ||
| ENST00000545707.5:c.675_679+3del | ||
| ENST00000557933.5:c.1056_1060+3del | ||
| ENST00000558013.5:c.1056_1060+3del | ||
| ENST00000558518.5:c.1056_1060+3del | ||
| ENST00000560173.1:n.55_59+3del | ||
| ENST00000560467.1:c.541-747_541-740del | ||
| NM_000527.4:c.1056_1060+3del , LRG_274t1:c.1056_1060+3del | ||
| NM_001195798.1:c.1056_1060+3del | ||
| NM_001195799.1:c.933_937+3del | ||
| NM_001195800.1:c.552_556+3del | ||
| NM_001195803.1:c.675_679+3del | ||
| XM_011528010.1:c.1056_1060+3del | ||
| XM_011528011.1:c.675_679+3del | ||
| XR_244074.2:n.1206_1210+3del | ||
| XM_011528010.2:c.1056_1060+3del | ||
| XR_001753685.2:n.1173_1177+3del | ||
| XR_001753686.2:n.1173_1177+3del | ||
| NM_000527.5:c.1056_1060+3del | ||
| NM_001195798.2:c.1056_1060+3del | ||
| NM_001195799.2:c.933_937+3del | ||
| NM_001195800.2:c.552_556+3del | ||
| NM_001195803.2:c.675_679+3del |