Linked Data
ClinVar Variation Id:
218167
ClinVar RCV Id:
RCV000202395
dbSNP Id:
rs863225445
PubMed:
PMID:26510951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43934202_43934204del , CM000664.2:g.43934202_43934204del | GRCh38 |
| NC_000002.11:g.44161341_44161343del , CM000664.1:g.44161341_44161343del | GRCh37 |
| NC_000002.10:g.44014845_44014847del | NCBI36 |
| NG_008247.1:g.66806_66808del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681961.1:n.2746_2748del | ||
| ENST00000682303.1:c.*2512_*2514del | ENSP00000508325.1:n.*2512_*2514del | |
| ENST00000682308.1:c.2726_2728del | ENSP00000507056.1:p.Lys909del | |
| ENST00000682480.1:c.2726_2728del | ENSP00000508344.1:p.Lys909del | |
| ENST00000682546.1:c.2723_2725del | ENSP00000508188.1:p.Lys908del | |
| ENST00000682585.1:c.2726_2728del | ENSP00000506885.1:p.Lys909del | |
| ENST00000682595.1:n.3308_3310del | ||
| ENST00000682607.1:c.1144_1146del | ||
| ENST00000682779.1:c.2717_2719del | ENSP00000507947.1:p.Lys906del | |
| ENST00000682845.1:n.1828_1830del | ||
| ENST00000682885.1:c.2681_2683del | ENSP00000508036.1:p.Lys894del | |
| ENST00000682933.1:n.2800_2802del | ||
| ENST00000683072.1:n.3308_3310del | ||
| ENST00000683125.1:c.2726_2728del | ENSP00000507939.1:p.Lys909del | |
| ENST00000683213.1:c.2729_2731del | ENSP00000507751.1:p.Lys910del | |
| ENST00000683220.1:c.2756_2758del | ENSP00000507151.1:p.Lys919del | |
| ENST00000683329.1:n.3529_3531del | ||
| ENST00000683346.1:c.*2601_*2603del | ENSP00000507458.1:n.*2601_*2603del | |
| ENST00000683459.1:n.3313_3315del | ||
| ENST00000683590.1:c.2726_2728del | ENSP00000506820.1:p.Lys909del | |
| ENST00000683623.1:c.2633_2635del | ENSP00000507702.1:p.Lys878del | |
| ENST00000683645.1:n.3277_3279del | ||
| ENST00000683694.1:n.1477_1479del | ||
| ENST00000683796.1:c.*2598_*2600del | ENSP00000508221.1:n.*2598_*2600del | |
| ENST00000683802.1:n.5651_5653del | ||
| ENST00000683833.1:c.2717_2719del | ENSP00000506852.1:p.Lys906del | |
| ENST00000683989.1:c.2726_2728del | ENSP00000507510.1:p.Lys909del | |
| ENST00000683994.1:c.2726_2728del | ENSP00000507181.1:p.Lys909del | |
| ENST00000684290.1:c.*420_*422del | ENSP00000507243.1:n.*420_*422del | |
| ENST00000684306.1:c.*2639_*2641del | ENSP00000508384.1:n.*2639_*2641del | |
| ENST00000684341.1:n.2746_2748del | ||
| ENST00000684383.1:c.*2364_*2366del | ENSP00000506863.1:n.*2364_*2366del | |
| ENST00000684397.1:c.333+554_333+556del | ||
| ENST00000684619.1:c.*2598_*2600del | ENSP00000508088.1:n.*2598_*2600del | |
| ENST00000684743.1:n.3757_3759del | ||
| ENST00000260665.12:c.2726_2728del MANE Select | ENSP00000260665.7:p.Lys909del | |
| ENST00000260665.11:c.2726_2728del | ENSP00000260665.7:p.Lys909del | |
| NM_133259.3:c.2726_2728del | NP_573566.2:p.Lys909del | |
| XM_006711915.2:c.2648_2650del | XP_006711978.1:p.Lys883del | |
| XM_006711916.2:c.2726_2728del | XP_006711979.1:p.Lys909del | |
| XM_011532473.1:c.2726_2728del | XP_011530775.1:p.Lys909del | |
| XM_011532474.1:c.2726_2728del | XP_011530776.1:p.Lys909del | |
| XM_006711916.3:c.2726_2728del | XP_006711979.1:p.Lys909del | |
| XM_017003117.1:c.2648_2650del | XP_016858606.1:p.Lys883del | |
| XR_002958896.1:n.2768_2770del | ||
| NM_133259.4:c.2726_2728del MANE Select | NP_573566.2:p.Lys909del |