Linked Data
ClinVar Variation Id:
30947
ClinVar RCV Id:
RCV000023937
dbSNP Id:
rs796052139
gnomAD v2:
10-73103971-CTT-C
gnomAD v4:
10-71344214-CTT-C
MyVariant Identifiers:
chr10:g.73103973_73103974del (hg19)
chr10:g.73103972_73103973del (hg19)
chr10:g.71344216_71344217del (hg38)
chr10:g.71344215_71344216del (hg38)
PubMed:
PMID:20140240
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71344216_71344217del , CM000672.2:g.71344216_71344217del | GRCh38 |
| NC_000010.10:g.73103973_73103974del , CM000672.1:g.73103973_73103974del | GRCh37 |
| NC_000010.9:g.72773979_72773980del | NCBI36 |
| NG_017066.1:g.29964_29965del | |
| NG_017066.2:g.29958_29959del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697843.1:n.754_755del | ||
| ENST00000373189.6:c.308_309del MANE Select | ENSP00000362285.5:p.Phe103Ter | |
| ENST00000479577.2:c.74_75del | ENSP00000493995.1:p.Phe25Ter | |
| ENST00000642198.1:c.67-7346_67-7345del | ENSP00000494827.1:n.67-7346_67-7345del | |
| ENST00000642772.1:c.301-11865_301-11864del | ENSP00000495041.1:n.301-11865_301-11864de... | |
| ENST00000643042.1:c.232-11865_232-11864del | ENSP00000496674.1:n.232-11865_232-11864de... | |
| ENST00000643619.1:c.74_75del | ENSP00000494378.1:p.Phe25Ter | |
| ENST00000643752.1:c.308_309del | ENSP00000495000.1:p.Phe103Ter | |
| ENST00000644088.1:c.301-11865_301-11864del | ENSP00000494066.1:n.301-11865_301-11864de... | |
| ENST00000644591.1:c.301-7346_301-7345del | ENSP00000496664.1:n.301-7346_301-7345del | |
| ENST00000644895.1:c.301-7346_301-7345del | ENSP00000493872.1:n.301-7346_301-7345del | |
| ENST00000645345.1:c.301-7346_301-7345del | ENSP00000495859.1:n.301-7346_301-7345del | |
| ENST00000647524.1:c.308_309del | ENSP00000495077.1:p.Phe103Ter | |
| ENST00000373189.5:c.308_309del | ENSP00000362285.5:p.Phe103Ter | |
| NM_001174098.1:c.308_309del | NP_001167569.1:p.Phe103Ter | |
| NM_018344.5:c.308_309del | NP_060814.4:p.Phe103Ter | |
| NR_033413.1:n.358-7346_358-7345del | ||
| NR_033414.1:n.358-11865_358-11864del | ||
| XM_006717910.2:c.74_75del | XP_006717973.1:p.Phe25Ter | |
| XR_946051.1:n.626-2835_626-2834del | ||
| NM_001363518.1:c.74_75del | NP_001350447.1:p.Phe25Ter | |
| XM_017016377.2:c.-55-7346_-55-7345del | XP_016871866.1:n.-55-7346_-55-7345del | |
| XM_017016378.2:c.-8-11865_-8-11864del | XP_016871867.1:n.-8-11865_-8-11864del | |
| XR_001747496.1:n.1552-2835_1552-2834del | ||
| XR_001747497.1:n.28_29del | ||
| XR_946051.2:n.1552-2835_1552-2834del | ||
| NM_018344.6:c.308_309del MANE Select | NP_060814.4:p.Phe103Ter | |
| NM_001174098.2:c.308_309del | NP_001167569.1:p.Phe103Ter | |
| NM_001363518.2:c.74_75del | NP_001350447.1:p.Phe25Ter | |
| NR_033413.2:n.352-7346_352-7345del | ||
| NR_033414.2:n.352-11865_352-11864del |