Linked Data
dbSNP Id:
rs1014584420
gnomAD v3:
10-100749431-T-TC
gnomAD v4:
10-100749431-T-TC
MyVariant Identifiers:
chr10:g.102509188_102509189insC (hg19)
chr10:g.100749431_100749432insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100749435dup , CM000672.2:g.100749435dup | GRCh38 |
| NC_000010.10:g.102509192dup , CM000672.1:g.102509192dup | GRCh37 |
| NC_000010.9:g.102499182dup | NCBI36 |
| NG_008680.1:g.8725dup | |
| NG_008680.2:g.18727dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707078.1:c.137-311dup | ENSP00000516729.1:n.137-311dup | |
| ENST00000707079.1:c.44-311dup | ENSP00000516730.1:n.44-311dup | |
| ENST00000355243.8:c.44-311dup MANE Select | ENSP00000347385.3:n.44-311dup | |
| ENST00000427256.6:c.44-311dup | ENSP00000398652.2:n.44-311dup | |
| ENST00000679374.1:c.26-311dup | ENSP00000506041.1:n.26-311dup | |
| ENST00000355243.7:c.44-311dup | ENSP00000347385.2:n.44-311dup | |
| ENST00000361791.7:c.44-314dup | ENSP00000355069.4:n.44-314dup | |
| ENST00000370296.6:c.44-311dup | ENSP00000359319.3:n.44-311dup | |
| ENST00000427256.5:c.44-311dup | ENSP00000398652.1:n.44-311dup | |
| ENST00000428433.5:c.44-311dup | ENSP00000396259.1:n.44-311dup | |
| ENST00000483202.2:n.1046-311dup | ||
| ENST00000553492.5:n.131+13702dup | ||
| ENST00000554172.2:c.-256dup | ENSP00000452489.2:n.-256dup | |
| ENST00000554363.2:n.125+3132dup | ||
| NM_000278.3:c.44-311dup | NP_000269.2:n.44-311dup | |
| NM_001304569.1:c.137-311dup | NP_001291498.1:n.137-311dup | |
| NM_003987.3:c.44-311dup | NP_003978.2:n.44-311dup | |
| NM_003988.3:c.44-311dup | NP_003979.2:n.44-311dup | |
| NM_003989.3:c.44-311dup | NP_003980.2:n.44-311dup | |
| NM_003990.3:c.44-311dup | NP_003981.2:n.44-311dup | |
| NM_000278.4:c.44-311dup | NP_000269.3:n.44-311dup | |
| NM_003987.4:c.44-311dup | NP_003978.3:n.44-311dup | |
| NM_003988.4:c.44-311dup | NP_003979.2:n.44-311dup | |
| NM_003989.4:c.44-311dup | NP_003980.3:n.44-311dup | |
| NM_003990.4:c.44-311dup | NP_003981.3:n.44-311dup | |
| NM_000278.5:c.44-311dup MANE Select | NP_000269.3:n.44-311dup | |
| NM_001304569.2:c.137-311dup | NP_001291498.1:n.137-311dup | |
| NM_003987.5:c.44-311dup | NP_003978.3:n.44-311dup | |
| NM_003988.5:c.44-311dup | NP_003979.2:n.44-311dup | |
| NM_003989.5:c.44-311dup | NP_003980.3:n.44-311dup | |
| NM_003990.5:c.44-311dup | NP_003981.3:n.44-311dup |