Linked Data
dbSNP Id:
rs1353024600
gnomAD v2:
6-15656936-A-ACC
gnomAD v3:
6-15656705-A-ACC
gnomAD v4:
6-15656705-A-ACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15656706_15656707dup , CM000668.2:g.15656706_15656707dup | GRCh38 |
| NC_000006.11:g.15656937_15656938dup , CM000668.1:g.15656937_15656938dup | GRCh37 |
| NC_000006.10:g.15764916_15764917dup | NCBI36 |
| NG_009309.1:g.11334_11335dup , LRG_588:g.11334_11335dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.57-4567_57-4566dup MANE Select | ENSP00000341680.6:n.57-4567_57-4566dup | |
| ENST00000338950.9:c.57-4567_57-4566dup | ENSP00000344718.5:n.57-4567_57-4566dup | |
| ENST00000344537.9:c.57-4567_57-4566dup | ENSP00000341680.5:n.57-4567_57-4566dup | |
| ENST00000355917.7:c.57-4567_57-4566dup | ENSP00000348183.4:n.57-4567_57-4566dup | |
| ENST00000506844.1:c.*54+3676_*54+3677dup | ENSP00000424202.1:n.*54+3676_*54+3677dup | |
| ENST00000510395.5:c.57-4567_57-4566dup | ENSP00000424685.1:n.57-4567_57-4566dup | |
| ENST00000511762.2:c.56+6107_56+6108dup | ENSP00000427473.2:n.56+6107_56+6108dup | |
| ENST00000513680.5:c.*54+3676_*54+3677dup | ENSP00000424357.1:n.*54+3676_*54+3677dup | |
| ENST00000515875.5:c.57-4567_57-4566dup | ENSP00000425495.1:n.57-4567_57-4566dup | |
| ENST00000622898.4:c.56+6107_56+6108dup | ENSP00000481997.1:n.56+6107_56+6108dup | |
| NM_001271667.1:c.-232-4567_-232-4566dup | NP_001258596.1:n.-232-4567_-232-4566dup | |
| NM_001271668.1:c.57-4567_57-4566dup | NP_001258597.1:n.57-4567_57-4566dup | |
| NM_001271669.1:c.56+6107_56+6108dup | NP_001258598.1:n.56+6107_56+6108dup | |
| NM_032122.4:c.57-4567_57-4566dup , LRG_588t1:c.57-4567_57-4566dup | NP_115498.2:n.57-4567_57-4566dup | |
| NM_183040.2:c.57-4567_57-4566dup , LRG_588t2:c.57-4567_57-4566dup | NP_898861.1:n.57-4567_57-4566dup | |
| NR_036448.1:n.384+3676_384+3677dup | ||
| XM_005249447.3:c.17+3676_17+3677dup | XP_005249504.1:n.17+3676_17+3677dup | |
| XM_011514936.1:c.17+3676_17+3677dup | XP_011513238.1:n.17+3676_17+3677dup | |
| XM_005249447.4:c.17+3676_17+3677dup | XP_005249504.1:n.17+3676_17+3677dup | |
| XM_011514936.3:c.17+3676_17+3677dup | XP_011513238.1:n.17+3676_17+3677dup | |
| NM_032122.5:c.57-4567_57-4566dup MANE Select | NP_115498.2:n.57-4567_57-4566dup | |
| NR_036448.2:n.354+3676_354+3677dup | ||
| NM_001271667.2:c.-232-4567_-232-4566dup | NP_001258596.1:n.-232-4567_-232-4566dup | |
| NM_001271668.2:c.57-4567_57-4566dup | NP_001258597.1:n.57-4567_57-4566dup | |
| NM_001271669.2:c.56+6107_56+6108dup | NP_001258598.1:n.56+6107_56+6108dup | |
| NR_036448.3:n.354+3676_354+3677dup |