Linked Data
dbSNP Id:
rs1390053185
gnomAD v2:
22-39640616-C-CCGCG
gnomAD v3:
22-39244611-C-CCGCG
gnomAD v4:
22-39244611-C-CCGCG
MyVariant Identifiers:
chr22:g.39640616_39640617insCGCG (hg19)
chr22:g.39244611_39244612insCGCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244618_39244621dup , CM000684.2:g.39244618_39244621dup | GRCh38 |
| NC_000022.10:g.39640623_39640626dup , CM000684.1:g.39640623_39640626dup | GRCh37 |
| NC_000022.9:g.37970569_37970572dup | NCBI36 |
| NG_012111.1:g.5338_5341dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.-652_-649dup MANE Select | ENSP00000330382.6:n.-652_-649dup | |
| ENST00000331163.10:c.-652_-649dup | ENSP00000330382.6:n.-652_-649dup | |
| NM_002608.2:c.-652_-649dup | NP_002599.1:n.-652_-649dup | |
| NM_002608.3:c.-652_-649dup | NP_002599.1:n.-652_-649dup | |
| NM_002608.4:c.-652_-649dup MANE Select | NP_002599.1:n.-652_-649dup |