Linked Data
dbSNP Id:
rs1217331836
gnomAD v2:
6-31918571-A-AGGAAAGGCTG
gnomAD v3:
6-31950794-A-AGGAAAGGCTG
gnomAD v4:
6-31950794-A-AGGAAAGGCTG
MyVariant Identifiers:
chr6:g.31918581_31918582insGGAAAGGCTG (hg19)
chr6:g.31950804_31950805insGGAAAGGCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950806_31950815dup , CM000668.2:g.31950806_31950815dup | GRCh38 |
| NC_000006.11:g.31918583_31918592dup , CM000668.1:g.31918583_31918592dup | GRCh37 |
| NC_000006.10:g.32026562_32026571dup | NCBI36 |
| NG_008191.1:g.9863_9872dup , LRG_136:g.9863_9872dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2204_2213dup | ||
| ENST00000483004.2:c.1562+34_1562+43dup | ENSP00000419887.2:n.1562+34_1562+43dup | |
| ENST00000698628.1:c.1625-338_1625-329dup | ENSP00000513848.1:n.1625-338_1625-329dup | |
| ENST00000698629.1:n.1989_1998dup | ||
| ENST00000698630.1:n.2494+34_2494+43dup | ||
| ENST00000698631.1:n.2495+34_2495+43dup | ||
| ENST00000698632.1:n.3323_3332dup | ||
| ENST00000698633.1:n.3213_3222dup | ||
| ENST00000425368.7:c.1778+34_1778+43dup MANE Select | ENSP00000416561.2:n.1778+34_1778+43dup | |
| ENST00000425368.6:c.1778+34_1778+43dup | ENSP00000416561.2:n.1778+34_1778+43dup | |
| ENST00000456570.5:c.3284+34_3284+43dup | ENSP00000410815.1:n.3284+34_3284+43dup | |
| ENST00000467360.1:n.904+34_904+43dup | ||
| ENST00000477310.1:c.2831+34_2831+43dup | ENSP00000418996.1:n.2831+34_2831+43dup | |
| ENST00000483004.1:c.400+34_400+43dup | ||
| NM_001710.5:c.1778+34_1778+43dup , LRG_136t1:c.1778+34_1778+43dup | NP_001701.2:n.1778+34_1778+43dup | |
| NM_001710.6:c.1778+34_1778+43dup MANE Select | NP_001701.2:n.1778+34_1778+43dup |