Linked Data
dbSNP Id:
rs1568249392
gnomAD v2:
19-4094281-TGA-T
gnomAD v3:
19-4094283-TGA-T
gnomAD v4:
19-4094283-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094290_4094291del , CM000681.2:g.4094290_4094291del | GRCh38 |
| NC_000019.9:g.4094288_4094289del , CM000681.1:g.4094288_4094289del | GRCh37 |
| NC_000019.8:g.4045288_4045289del | NCBI36 |
| NG_007996.1:g.34844_34845del , LRG_750:g.34844_34845del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1531+168_1531+169del | ||
| ENST00000688002.1:n.3243+168_3243+169del | ||
| ENST00000688751.1:n.228+168_228+169del | ||
| ENST00000689792.1:n.996+168_996+169del | ||
| ENST00000262948.10:c.1092+168_1092+169del MANE Select | ENSP00000262948.4:n.1092+168_1092+169del | |
| ENST00000262948.9:c.1092+168_1092+169del | ENSP00000262948.3:n.1092+168_1092+169del | |
| ENST00000394867.8:c.801+168_801+169del | ENSP00000378336.1:n.801+168_801+169del | |
| ENST00000597263.5:n.277+168_277+169del | ||
| ENST00000599021.1:c.202+168_202+169del | ||
| ENST00000600584.5:n.2541+168_2541+169del | ||
| ENST00000601786.5:n.1393+168_1393+169del | ||
| NM_030662.3:c.1092+168_1092+169del , LRG_750t1:c.1092+168_1092+169del | NP_109587.1:n.1092+168_1092+169del | |
| XM_006722799.2:c.813+168_813+169del | XP_006722862.1:n.813+168_813+169del | |
| XM_011528133.1:c.522+168_522+169del | XP_011526435.1:n.522+168_522+169del | |
| NM_030662.4:c.1092+168_1092+169del MANE Select | NP_109587.1:n.1092+168_1092+169del |