Linked Data
dbSNP Id:
rs1454012444
gnomAD v2:
19-4094624-A-AGT
gnomAD v3:
19-4094626-A-AGT
gnomAD v4:
19-4094626-A-AGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094628_4094629dup , CM000681.2:g.4094628_4094629dup | GRCh38 |
| NC_000019.9:g.4094626_4094627dup , CM000681.1:g.4094626_4094627dup | GRCh37 |
| NC_000019.8:g.4045626_4045627dup | NCBI36 |
| NG_007996.1:g.34501_34502dup , LRG_750:g.34501_34502dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1486-130_1486-129dup | ||
| ENST00000688002.1:n.3198-130_3198-129dup | ||
| ENST00000688751.1:n.183-130_183-129dup | ||
| ENST00000689792.1:n.951-130_951-129dup | ||
| ENST00000262948.10:c.1047-130_1047-129dup MANE Select | ENSP00000262948.4:n.1047-130_1047-129dup | |
| ENST00000262948.9:c.1047-130_1047-129dup | ENSP00000262948.3:n.1047-130_1047-129dup | |
| ENST00000394867.8:c.756-130_756-129dup | ENSP00000378336.1:n.756-130_756-129dup | |
| ENST00000597263.5:n.232-130_232-129dup | ||
| ENST00000599021.1:c.157-130_157-129dup | ||
| ENST00000600584.5:n.2366_2367dup | ||
| ENST00000601786.5:n.1348-130_1348-129dup | ||
| NM_030662.3:c.1047-130_1047-129dup , LRG_750t1:c.1047-130_1047-129dup | NP_109587.1:n.1047-130_1047-129dup | |
| XM_006722799.2:c.768-130_768-129dup | XP_006722862.1:n.768-130_768-129dup | |
| XM_011528133.1:c.477-130_477-129dup | XP_011526435.1:n.477-130_477-129dup | |
| XM_017026989.1:c.1465_1466dup | XP_016882478.1:p.Gly492LeufsTer? | |
| XM_017026990.1:c.1186_1187dup | XP_016882479.1:p.Gly399LeufsTer? | |
| NM_030662.4:c.1047-130_1047-129dup MANE Select | NP_109587.1:n.1047-130_1047-129dup |