Linked Data
dbSNP Id:
rs1422269683
gnomAD v2:
11-63963732-A-ATGG
gnomAD v3:
11-64196260-A-ATGG
gnomAD v4:
11-64196260-A-ATGG
MyVariant Identifiers:
chr11:g.63963732_63963733insTGG (hg19)
chr11:g.64196260_64196261insTGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64196264_64196266dup , CM000673.2:g.64196264_64196266dup | GRCh38 |
| NC_000011.9:g.63963736_63963738dup , CM000673.1:g.63963736_63963738dup | GRCh37 |
| NC_000011.8:g.63720312_63720314dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305218.9:c.672+451_672+453dup MANE Select | ENSP00000305958.5:n.672+451_672+453dup | |
| ENST00000305218.8:c.672+451_672+453dup | ENSP00000305958.4:n.672+451_672+453dup | |
| ENST00000358794.9:c.813+451_813+453dup | ENSP00000351646.5:n.813+451_813+453dup | |
| ENST00000536973.5:c.361+1934_361+1936dup | ENSP00000441036.1:n.361+1934_361+1936dup | |
| ENST00000538945.5:c.600+451_600+453dup | ENSP00000445957.1:n.600+451_600+453dup | |
| NM_001282652.1:c.813+451_813+453dup | NP_001269581.1:n.813+451_813+453dup | |
| NM_001282653.1:c.600+451_600+453dup | NP_001269582.1:n.600+451_600+453dup | |
| NM_006819.2:c.672+451_672+453dup | NP_006810.1:n.672+451_672+453dup | |
| NM_001282653.2:c.600+451_600+453dup | NP_001269582.1:n.600+451_600+453dup | |
| NM_006819.3:c.672+451_672+453dup MANE Select | NP_006810.1:n.672+451_672+453dup | |
| NM_001282652.2:c.813+451_813+453dup | NP_001269581.1:n.813+451_813+453dup |