Linked Data
dbSNP Id:
rs1240865579
gnomAD v2:
1-169455013-C-CGAGGG
gnomAD v3:
1-169485775-C-CGAGGG
gnomAD v4:
1-169485775-C-CGAGGG
MyVariant Identifiers:
chr1:g.169455013_169455014insGAGGG (hg19)
chr1:g.169485775_169485776insGAGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485783_169485787dup , CM000663.2:g.169485783_169485787dup | GRCh38 |
| NC_000001.10:g.169455021_169455025dup , CM000663.1:g.169455021_169455025dup | GRCh37 |
| NC_000001.9:g.167721645_167721649dup | NCBI36 |
| NG_008255.1:g.5191_5195dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.-14_-10dup MANE Select | ENSP00000236137.5:n.-14_-10dup | |
| ENST00000646596.1:c.-14_-10dup | ENSP00000494404.1:n.-14_-10dup | |
| ENST00000236137.9:c.-14_-10dup | ENSP00000236137.5:n.-14_-10dup | |
| ENST00000367804.4:c.-14_-10dup | ENSP00000356778.3:n.-14_-10dup | |
| NM_006996.2:c.-14_-10dup | NP_008927.1:n.-14_-10dup | |
| XM_011509076.1:c.12+273_12+277dup | XP_011507378.1:n.12+273_12+277dup | |
| XM_011509077.1:c.-14_-10dup | XP_011507379.1:n.-14_-10dup | |
| NM_001319667.1:c.-14_-10dup | NP_001306596.1:n.-14_-10dup | |
| NM_006996.3:c.-14_-10dup MANE Select | NP_008927.1:n.-14_-10dup |