Linked Data
dbSNP Id:
rs1368456070
gnomAD v3:
22-39244697-C-CCGCT
gnomAD v4:
22-39244697-C-CCGCT
MyVariant Identifiers:
chr22:g.39640702_39640703insCGCT (hg19)
chr22:g.39244697_39244698insCGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244701_39244704dup , CM000684.2:g.39244701_39244704dup | GRCh38 |
| NC_000022.10:g.39640706_39640709dup , CM000684.1:g.39640706_39640709dup | GRCh37 |
| NC_000022.9:g.37970652_37970655dup | NCBI36 |
| NG_012111.1:g.5252_5255dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.-738_-735dup MANE Select | ENSP00000330382.6:n.-738_-735dup | |
| ENST00000331163.10:c.-738_-735dup | ENSP00000330382.6:n.-738_-735dup | |
| NM_002608.2:c.-738_-735dup | NP_002599.1:n.-738_-735dup | |
| NM_002608.3:c.-738_-735dup | NP_002599.1:n.-738_-735dup | |
| NM_002608.4:c.-738_-735dup MANE Select | NP_002599.1:n.-738_-735dup |