Linked Data
ClinVar Variation Id:
286243
ClinVar RCV Id:
RCV000378466
dbSNP Id:
rs1555643564
MyVariant Identifiers:
chr17:g.73512649_73512650insGGATCC (hg19)
chr17:g.75516568_75516569insGGATCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516568_75516569insGGATCC , CM000679.2:g.75516568_75516569insGGATCC | GRCh38 |
| NC_000017.10:g.73512649_73512650insGGATCC , CM000679.1:g.73512649_73512650insGGATCC | GRCh37 |
| NC_000017.9:g.71024244_71024245insGGATCC | NCBI36 |
| NG_013041.1:g.5041_5042insGGATCC | |
| NG_033152.1:g.4017_4018insATCCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.8_9insGGATCC MANE Select | ENSP00000327487.6:p.Pro3_Glu4insAspPro | |
| ENST00000434205.8:c.-83+182_-83+183insGGATCC | ENSP00000406559.4:n.-83+182_-83+183insGGATCC | |
| ENST00000545228.3:c.8_9insGGATCC | ENSP00000438169.3:p.Pro3_Glu4insAspPro | |
| ENST00000580013.6:n.17_18insGGATCC | ||
| ENST00000583818.2:c.8_9insGGATCC | ENSP00000461928.2:p.Pro3_Glu4insAspPro | |
| ENST00000679370.1:n.444-178_444-177insGGATCC | ||
| ENST00000679429.1:c.8_9insGGATCC | ENSP00000505403.1:p.Pro3_Glu4insAspPro | |
| ENST00000679782.1:c.8_9insGGATCC | ENSP00000505995.1:p.Pro3_Glu4insAspPro | |
| ENST00000679928.1:c.8_9insGGATCC | ENSP00000506071.1:p.Pro3_Glu4insAspPro | |
| ENST00000680528.1:n.33_34insGGATCC | ||
| ENST00000680999.1:c.8_9insGGATCC | ENSP00000504984.1:p.Pro3_Glu4insAspPro | |
| ENST00000681282.1:c.8_9insGGATCC | ENSP00000506339.1:p.Pro3_Glu4insAspPro | |
| ENST00000333213.10:c.8_9insGGATCC | ENSP00000327487.6:p.Pro3_Glu4insAspPro | |
| ENST00000434205.7:c.-83+182_-83+183insGGATCC | ENSP00000406559.3:n.-83+182_-83+183insGGATCC | |
| ENST00000580013.5:n.33_34insGGATCC | ||
| ENST00000583173.5:c.8_9insGGATCC | ENSP00000463619.1:p.Pro3_Glu4insAspPro | |
| ENST00000583454.1:n.43_44insGGATCC | ||
| NM_207346.2:c.8_9insGGATCC | NP_997229.2:p.Pro3_Glu4insAspPro | |
| XM_005257229.2:c.8_9insGGATCC | XP_005257286.1:p.Pro3_Glu4insAspPro | |
| XM_006721821.2:c.-247-178_-247-177insGGATCC | XP_006721884.1:n.-247-178_-247-177insGGATCC | |
| XM_011524616.1:c.8_9insGGATCC | XP_011522918.1:p.Pro3_Glu4insAspPro | |
| XM_011524617.1:c.8_9insGGATCC | XP_011522919.1:p.Pro3_Glu4insAspPro | |
| XM_011524618.1:c.8_9insGGATCC | XP_011522920.1:p.Pro3_Glu4insAspPro | |
| XR_243646.2:n.38_39insGGATCC | ||
| XM_005257229.4:c.8_9insGGATCC | XP_005257286.1:p.Pro3_Glu4insAspPro | |
| XR_243646.4:n.44_45insGGATCC | ||
| NM_207346.3:c.8_9insGGATCC MANE Select | NP_997229.2:p.Pro3_Glu4insAspPro |