Linked Data
ClinVar Variation Id:
225497
dbSNP Id:
rs1085307100
gnomAD v4:
6-123512344-A-AT
MyVariant Identifiers:
chr6:g.123833490dupT (hg19)
chr6:g.123833489_123833490insT (hg19)
chr6:g.123512345dupT (hg38)
chr6:g.123512344_123512345insT (hg38)
PubMed:
PMID:22422768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123512350dup , CM000668.2:g.123512350dup | GRCh38 |
| NC_000006.11:g.123833495dup , CM000668.1:g.123833495dup | GRCh37 |
| NC_000006.10:g.123875194dup | NCBI36 |
| NG_030438.1:g.129749dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361029.9:c.370dup | ENSP00000354307.5:p.Ile124AsnfsTer2 | |
| ENST00000546248.6:c.568dup | ENSP00000439281.2:p.Ile190AsnfsTer2 | |
| ENST00000334268.9:c.568dup MANE Select | ENSP00000333984.5:p.Ile190AsnfsTer2 | |
| ENST00000662930.1:c.568dup | ENSP00000499585.1:p.Ile190AsnfsTer2 | |
| ENST00000334268.8:c.568dup | ENSP00000333984.5:p.Ile190AsnfsTer2 | |
| ENST00000361029.8:c.84dup | ||
| ENST00000546248.5:c.568dup | ENSP00000439281.2:p.Ile190AsnfsTer2 | |
| ENST00000628709.2:c.568dup | ENSP00000486095.1:p.Ile190AsnfsTer2 | |
| NM_001251987.1:c.568dup | NP_001238916.1:p.Ile190AsnfsTer2 | |
| NM_001256020.1:c.568dup | NP_001242949.1:p.Ile190AsnfsTer2 | |
| NM_001256021.1:c.568dup | NP_001242950.1:p.Ile190AsnfsTer2 | |
| NM_006073.3:c.568dup | NP_006064.2:p.Ile190AsnfsTer2 | |
| XM_011535382.1:c.568dup | XP_011533684.1:p.Ile190AsnfsTer2 | |
| NM_006073.4:c.568dup MANE Select | NP_006064.2:p.Ile190AsnfsTer2 | |
| NM_001251987.2:c.568dup | NP_001238916.1:p.Ile190AsnfsTer2 | |
| NM_001256020.2:c.568dup | NP_001242949.1:p.Ile190AsnfsTer2 | |
| NM_001256021.2:c.568dup | NP_001242950.1:p.Ile190AsnfsTer2 |