Linked Data
dbSNP Id:
rs1345803545
gnomAD v2:
9-104190709-G-GCTTACA
gnomAD v4:
9-101428427-G-GCTTACA
MyVariant Identifiers:
chr9:g.104190709_104190710insCTTACA (hg19)
chr9:g.101428427_101428428insCTTACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101428430_101428435dup , CM000671.2:g.101428430_101428435dup | GRCh38 |
| NC_000009.11:g.104190712_104190717dup , CM000671.1:g.104190712_104190717dup | GRCh37 |
| NC_000009.10:g.103230533_103230538dup | NCBI36 |
| NG_012387.1:g.12348_12353dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.379+36_379+41dup MANE Select | ENSP00000497767.1:n.379+36_379+41dup | |
| ENST00000648064.1:c.379+36_379+41dup | ENSP00000497990.1:n.379+36_379+41dup | |
| ENST00000648758.1:c.379+36_379+41dup | ENSP00000497731.1:n.379+36_379+41dup | |
| ENST00000649902.1:c.379+36_379+41dup | ENSP00000497216.1:n.379+36_379+41dup | |
| ENST00000374855.8:c.379+36_379+41dup | ENSP00000363988.4:n.379+36_379+41dup | |
| ENST00000468981.3:n.67+1376_67+1381dup | ||
| ENST00000616752.1:c.379+36_379+41dup | ENSP00000481363.1:n.379+36_379+41dup | |
| NM_000035.3:c.379+36_379+41dup | NP_000026.2:n.379+36_379+41dup | |
| NM_000035.4:c.379+36_379+41dup MANE Select | NP_000026.2:n.379+36_379+41dup |