Linked Data
ClinVar Variation Id:
553654
dbSNP Id:
rs1554183240
MyVariant Identifiers:
chr6:g.51659274del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659278del , CM000668.2:g.51659278del | GRCh38 |
| NC_000006.11:g.51524076del , CM000668.1:g.51524076del | GRCh37 |
| NC_000006.10:g.51632035del | NCBI36 |
| NG_008753.1:g.433352del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10852del MANE Select | ENSP00000360158.3:p.Arg3618GlufsTer8 | |
| ENST00000371117.7:c.10852del | ENSP00000360158.3:p.Arg3618GlufsTer8 | |
| NM_138694.3:c.10852del | NP_619639.3:p.Arg3618GlufsTer8 | |
| XM_011514679.1:c.10852del | XP_011512981.1:p.Arg3618GlufsTer8 | |
| XM_011514680.1:c.10852del | XP_011512982.1:p.Arg3618GlufsTer8 | |
| XM_011514681.1:c.10723del | XP_011512983.1:p.Arg3575GlufsTer8 | |
| XM_011514682.1:c.10714del | XP_011512984.1:p.Arg3572GlufsTer8 | |
| XM_011514683.1:c.10210del | XP_011512985.1:p.Arg3404GlufsTer8 | |
| XM_011514684.1:c.10141del | XP_011512986.1:p.Arg3381GlufsTer8 | |
| XM_011514687.1:c.10157-10054del | XP_011512989.1:n.10157-10054del | |
| XM_011514690.1:c.4927del | XP_011512992.1:p.Arg1643GlufsTer8 | |
| XM_011514691.1:c.4927del | XP_011512993.1:p.Arg1643GlufsTer8 | |
| XR_926870.1:n.535+6905del | ||
| XR_926871.1:n.403+6905del | ||
| XR_926872.1:n.535+6905del | ||
| XM_011514680.3:c.10852del | XP_011512982.1:p.Arg3618GlufsTer8 | |
| XM_011514682.3:c.10714del | XP_011512984.1:p.Arg3572GlufsTer8 | |
| XM_011514683.3:c.10210del | XP_011512985.1:p.Arg3404GlufsTer8 | |
| XM_011514684.3:c.10141del | XP_011512986.1:p.Arg3381GlufsTer8 | |
| XM_011514690.3:c.4927del | XP_011512992.1:p.Arg1643GlufsTer8 | |
| XM_011514691.3:c.4927del | XP_011512993.1:p.Arg1643GlufsTer8 | |
| XM_017010944.2:c.10852del | XP_016866433.1:p.Arg3618GlufsTer8 | |
| XM_017010945.2:c.10777del | XP_016866434.1:p.Arg3593GlufsTer8 | |
| XM_017010946.2:c.10657del | XP_016866435.1:p.Arg3553GlufsTer8 | |
| XM_017010947.2:c.10588del | XP_016866436.1:p.Arg3530GlufsTer8 | |
| XM_017010948.2:c.10141del | XP_016866437.1:p.Arg3381GlufsTer8 | |
| XM_017010949.2:c.8992del | XP_016866438.1:p.Arg2998GlufsTer8 | |
| XR_001743469.1:n.11128del | ||
| XR_001744157.1:n.3145+6905del | ||
| XR_926870.2:n.3145+6905del | ||
| XR_926871.2:n.3013+6905del | ||
| XR_926872.2:n.3145+6905del | ||
| NM_138694.4:c.10852del MANE Select | NP_619639.3:p.Arg3618GlufsTer8 |