Linked Data
dbSNP Id:
rs1171795749
gnomAD v2:
7-107559593-G-GCTA
MyVariant Identifiers:
chr7:g.107559593_107559594insCTA (hg19)
chr7:g.107919148_107919149insCTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107919148_107919149insCTA , CM000669.2:g.107919148_107919149insCTA | GRCh38 |
| NC_000007.13:g.107559593_107559594insCTA , CM000669.1:g.107559593_107559594insCTA | GRCh37 |
| NC_000007.12:g.107346829_107346830insCTA | NCBI36 |
| NG_008045.1:g.33008_33009insCTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000205402.10:c.1465-46_1465-45insCTA MANE Select | ENSP00000205402.3:n.1465-46_1465-45insCTA... | |
| ENST00000205402.9:c.1465-46_1465-45insCTA | ENSP00000205402.3:n.1465-46_1465-45insCTA... | |
| ENST00000415325.5:c.*1139-46_*1139-45insCTA | ENSP00000402593.1:n.*1139-46_*1139-45insC... | |
| ENST00000417551.5:c.1465-46_1465-45insCTA | ENSP00000390667.1:n.1465-46_1465-45insCTA... | |
| ENST00000437604.6:c.1321-46_1321-45insCTA | ENSP00000387542.2:n.1321-46_1321-45insCTA... | |
| ENST00000440410.5:c.1396-46_1396-45insCTA | ENSP00000417016.1:n.1396-46_1396-45insCTA... | |
| NM_000108.4:c.1465-46_1465-45insCTA | NP_000099.2:n.1465-46_1465-45insCTA | |
| NM_001289750.1:c.1168-46_1168-45insCTA | NP_001276679.1:n.1168-46_1168-45insCTA | |
| NM_001289751.1:c.1396-46_1396-45insCTA | NP_001276680.1:n.1396-46_1396-45insCTA | |
| NM_001289752.1:c.1321-46_1321-45insCTA | NP_001276681.1:n.1321-46_1321-45insCTA | |
| NM_000108.5:c.1465-46_1465-45insCTA MANE Select | NP_000099.2:n.1465-46_1465-45insCTA |