Linked Data
ClinVar Variation Id:
402525
ClinVar RCV Id:
RCV000455325
dbSNP Id:
rs34649909
ExAC:
6:4944004 T / TA
gnomAD v2:
6-4944004-T-TA
gnomAD v3:
6-4943770-T-TA
gnomAD v4:
6-4943770-T-TA
MyVariant Identifiers:
chr6:g.4944021dupA (hg19)
chr6:g.4944021_4944022insA (hg19)
chr6:g.4944007_4944008insA (hg19)
chr6:g.4944006_4944007insA (hg19)
chr6:g.4944005_4944006insA (hg19)
chr6:g.4944004_4944005insA (hg19)
chr6:g.4943787dupA (hg38)
chr6:g.4943787_4943788insA (hg38)
chr6:g.4943773_4943774insA (hg38)
chr6:g.4943772_4943773insA (hg38)
chr6:g.4943770_4943771insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.4943787dup , CM000668.2:g.4943787dup | GRCh38 |
| NC_000006.11:g.4944021dup , CM000668.1:g.4944021dup | GRCh37 |
| NC_000006.10:g.4889020dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397588.8:c.1332+31dup MANE Select | ENSP00000380718.3:n.1332+31dup | |
| ENST00000328908.9:c.1494+31dup | ENSP00000330512.5:n.1494+31dup | |
| ENST00000343762.5:c.936+31dup | ENSP00000340908.5:n.936+31dup | |
| ENST00000397588.7:c.1332+31dup | ENSP00000380718.3:n.1332+31dup | |
| ENST00000449732.6:c.936+31dup | ENSP00000394076.2:n.936+31dup | |
| ENST00000469671.1:n.706dup | ||
| ENST00000472453.5:n.1007+31dup | ||
| NM_001143970.1:c.936+31dup | NP_001137442.1:n.936+31dup | |
| NM_001143971.1:c.936+31dup | NP_001137443.1:n.936+31dup | |
| NM_004824.3:c.1332+31dup | NP_004815.3:n.1332+31dup | |
| NR_026590.1:n.1625+31dup | ||
| XM_011514997.1:c.1266+31dup | XP_011513299.1:n.1266+31dup | |
| XM_011514997.2:c.1266+31dup | XP_011513299.1:n.1266+31dup | |
| NM_004824.4:c.1332+31dup MANE Select | NP_004815.3:n.1332+31dup | |
| NM_001143971.2:c.936+31dup | NP_001137443.1:n.936+31dup | |
| NM_001368125.1:c.1494+31dup | NP_001355054.1:n.1494+31dup | |
| NM_001368126.1:c.1266+31dup | NP_001355055.1:n.1266+31dup | |
| NM_001368127.1:c.627+31dup | NP_001355056.1:n.627+31dup | |
| NM_001143970.2:c.936+31dup | NP_001137442.1:n.936+31dup |