Linked Data
gnomAD v4:
8-1858154-G-GGGTCCCCAGGTGAGTCCCCAGGT
MyVariant Identifiers:
chr8:g.1806320_1806321insGGTCCCCAGGTGAGTCCCCAGGT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1858157_1858179dup , CM000670.2:g.1858157_1858179dup | GRCh38 |
| NC_000008.10:g.1806323_1806345dup , CM000670.1:g.1806323_1806345dup | GRCh37 |
| NC_000008.9:g.1793730_1793752dup | NCBI36 |
| NG_008480.1:g.39175_39197dup , LRG_234:g.39175_39197dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349830.8:c.193+42_193+64dup MANE Select | ENSP00000340297.3:n.193+42_193+64dup | |
| ENST00000635773.1:c.652+42_652+64dup | ||
| ENST00000635855.1:c.*144+42_*144+64dup | ENSP00000489726.1:n.*144+42_*144+64dup | |
| ENST00000636175.1:c.583+42_583+64dup | ||
| ENST00000349830.7:c.193+42_193+64dup | ENSP00000340297.3:n.193+42_193+64dup | |
| ENST00000398564.5:c.265+42_265+64dup | ENSP00000381571.1:n.265+42_265+64dup | |
| ENST00000518288.5:c.265+42_265+64dup | ENSP00000431012.1:n.265+42_265+64dup | |
| ENST00000520359.5:c.193+42_193+64dup | ENSP00000427909.1:n.193+42_193+64dup | |
| NM_001308152.1:c.193+42_193+64dup | NP_001295081.1:n.193+42_193+64dup | |
| NM_001308153.1:c.265+42_265+64dup | NP_001295082.1:n.265+42_265+64dup | |
| NM_014629.2:c.193+42_193+64dup , LRG_234t1:c.193+42_193+64dup | NP_055444.2:n.193+42_193+64dup | |
| NM_014629.3:c.193+42_193+64dup | NP_055444.2:n.193+42_193+64dup | |
| XM_005266041.2:c.193+42_193+64dup | XP_005266098.1:n.193+42_193+64dup | |
| XM_011534766.1:c.193+42_193+64dup | XP_011533068.1:n.193+42_193+64dup | |
| XM_011534767.1:c.193+42_193+64dup | XP_011533069.1:n.193+42_193+64dup | |
| XM_011534768.1:c.193+42_193+64dup | XP_011533070.1:n.193+42_193+64dup | |
| XM_011534769.1:c.148+42_148+64dup | XP_011533071.1:n.148+42_148+64dup | |
| XM_011534770.1:c.193+42_193+64dup | XP_011533072.1:n.193+42_193+64dup | |
| XM_005266041.4:c.193+42_193+64dup | XP_005266098.1:n.193+42_193+64dup | |
| XM_011534767.2:c.193+42_193+64dup | XP_011533069.1:n.193+42_193+64dup | |
| XM_011534770.2:c.193+42_193+64dup | XP_011533072.1:n.193+42_193+64dup | |
| XM_017014003.1:c.265+42_265+64dup | XP_016869492.1:n.265+42_265+64dup | |
| XM_024447334.1:c.193+42_193+64dup | XP_024303102.1:n.193+42_193+64dup | |
| XM_024447335.1:c.277+42_277+64dup | XP_024303103.1:n.277+42_277+64dup | |
| NM_014629.4:c.193+42_193+64dup MANE Select | NP_055444.2:n.193+42_193+64dup | |
| NM_001308152.2:c.193+42_193+64dup | NP_001295081.1:n.193+42_193+64dup | |
| NM_001308153.2:c.265+42_265+64dup | NP_001295082.1:n.265+42_265+64dup |