Linked Data
dbSNP Id:
rs1565608171
gnomAD v2:
12-9268698-A-ACATTCC
gnomAD v3:
12-9116102-A-ACATTCC
gnomAD v4:
12-9116102-A-ACATTCC
MyVariant Identifiers:
chr12:g.9268698_9268699insCATTCC (hg19)
chr12:g.9116102_9116103insCATTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9116110_9116115dup , CM000674.2:g.9116110_9116115dup | GRCh38 |
| NC_000012.11:g.9268706_9268711dup , CM000674.1:g.9268706_9268711dup | GRCh37 |
| NC_000012.10:g.9159973_9159978dup | NCBI36 |
| NG_011717.1:g.4855_4860dup | |
| NG_011717.2:g.4855_4860dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.11:c.-259_-254dup (A2M) | ENSP00000323929.7:n.-259_-254dup | |
| ENST00000404455.2:c.-18+20_-18+25dup (A2M) | ENSP00000385710.2:n.-18+20_-18+25dup | |
| NM_000014.5:c.-259_-254dup (A2M) | NP_000005.2:n.-259_-254dup | |
| NM_001347423.1:c.-18+20_-18+25dup (A2M) | NP_001334352.1:n.-18+20_-18+25dup | |
| NM_001347424.1:c.-712_-707dup (A2M) | NP_001334353.1:n.-712_-707dup | |
| NM_001347425.1:c.-549_-544dup (A2M) | NP_001334354.1:n.-549_-544dup | |
| XM_017018683.1:c.*34-9264_*34-9259dup (KLRG1) | XP_016874172.1:n.*34-9264_*34-9259dup | |
| XM_017018684.1:c.*34-18976_*34-18971dup (KLRG1) | XP_016874173.1:n.*34-18976_*34-18971dup | |
| XM_017018685.1:c.*33+57944_*33+57949dup (KLRG1) | XP_016874174.1:n.*33+57944_*33+57949dup | |
| NM_001347423.2:c.-18+20_-18+25dup (A2M) | NP_001334352.2:n.-18+20_-18+25dup |