Linked Data
dbSNP Id:
rs539893769
gnomAD v3:
7-150957534-A-AAG
gnomAD v4:
7-150957534-A-AAG
MyVariant Identifiers:
chr7:g.150654622_150654623insAG (hg19)
chr7:g.150957534_150957535insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957534_150957535insAG , CM000669.2:g.150957534_150957535insAG | GRCh38 |
| NC_000007.13:g.150654622_150654623insAG , CM000669.1:g.150654622_150654623insAG | GRCh37 |
| NC_000007.12:g.150285555_150285556insAG | NCBI36 |
| NG_008916.1:g.25392_25393insCT , LRG_288:g.25392_25393insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1750-33_1750-32insCT | ||
| ENST00000262186.10:c.917-33_917-32insCT MANE Select | ENSP00000262186.5:n.917-33_917-32insCT | |
| ENST00000262186.9:c.917-33_917-32insCT | ENSP00000262186.5:n.917-33_917-32insCT | |
| ENST00000430723.4:c.569-33_569-32insCT | ENSP00000387657.4:n.569-33_569-32insCT | |
| ENST00000532957.5:n.1140-33_1140-32insCT | ||
| NM_000238.3:c.917-33_917-32insCT , LRG_288t1:c.917-33_917-32insCT | NP_000229.1:n.917-33_917-32insCT | |
| NM_172056.2:c.917-33_917-32insCT , LRG_288t2:c.917-33_917-32insCT | NP_742053.1:n.917-33_917-32insCT | |
| XM_011516185.1:c.617-33_617-32insCT | XP_011514487.1:n.617-33_617-32insCT | |
| XM_011516186.1:c.917-33_917-32insCT | XP_011514488.1:n.917-33_917-32insCT | |
| XM_011516185.2:c.617-33_617-32insCT | XP_011514487.1:n.617-33_617-32insCT | |
| XM_011516186.3:c.917-33_917-32insCT | XP_011514488.1:n.917-33_917-32insCT | |
| XM_017012195.1:c.767-33_767-32insCT | XP_016867684.1:n.767-33_767-32insCT | |
| XM_017012196.1:c.740-33_740-32insCT | XP_016867685.1:n.740-33_740-32insCT | |
| NM_000238.4:c.917-33_917-32insCT MANE Select | NP_000229.1:n.917-33_917-32insCT |