Linked Data
dbSNP Id:
rs748122508
MyVariant Identifiers:
chr7:g.150647644_150647645insCC (hg19)
chr7:g.150950556_150950557insCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950558_150950559dup , CM000669.2:g.150950558_150950559dup | GRCh38 |
| NC_000007.13:g.150647646_150647647dup , CM000669.1:g.150647646_150647647dup | GRCh37 |
| NC_000007.12:g.150278579_150278580dup | NCBI36 |
| NG_008916.1:g.32369_32370dup , LRG_288:g.32369_32370dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1444-138_1444-137dup | ||
| ENST00000684241.1:n.2979-138_2979-137dup | ||
| ENST00000262186.10:c.2146-138_2146-137dup MANE Select | ENSP00000262186.5:n.2146-138_2146-137dup | |
| ENST00000330883.9:c.1126-138_1126-137dup | ENSP00000328531.4:n.1126-138_1126-137dup | |
| ENST00000262186.9:c.2146-138_2146-137dup | ENSP00000262186.5:n.2146-138_2146-137dup | |
| ENST00000330883.8:c.1126-138_1126-137dup | ENSP00000328531.4:n.1126-138_1126-137dup | |
| ENST00000430723.4:c.1798-138_1798-137dup | ENSP00000387657.4:n.1798-138_1798-137dup | |
| ENST00000461280.1:n.1433-138_1433-137dup | ||
| ENST00000473610.5:n.1778-138_1778-137dup | ||
| ENST00000532957.5:n.2369-138_2369-137dup | ||
| NM_000238.3:c.2146-138_2146-137dup , LRG_288t1:c.2146-138_2146-137dup | NP_000229.1:n.2146-138_2146-137dup | |
| NM_001204798.1:c.1126-138_1126-137dup | NP_001191727.1:n.1126-138_1126-137dup | |
| NM_172056.2:c.2146-138_2146-137dup , LRG_288t2:c.2146-138_2146-137dup | NP_742053.1:n.2146-138_2146-137dup | |
| NM_172057.2:c.1126-138_1126-137dup , LRG_288t3:c.1126-138_1126-137dup | NP_742054.1:n.1126-138_1126-137dup | |
| XM_011516185.1:c.1846-138_1846-137dup | XP_011514487.1:n.1846-138_1846-137dup | |
| XM_011516186.1:c.2146-138_2146-137dup | XP_011514488.1:n.2146-138_2146-137dup | |
| XM_011516185.2:c.1846-138_1846-137dup | XP_011514487.1:n.1846-138_1846-137dup | |
| XM_011516186.3:c.2146-138_2146-137dup | XP_011514488.1:n.2146-138_2146-137dup | |
| XM_017012195.1:c.1996-138_1996-137dup | XP_016867684.1:n.1996-138_1996-137dup | |
| XM_017012196.1:c.1969-138_1969-137dup | XP_016867685.1:n.1969-138_1969-137dup | |
| NM_000238.4:c.2146-138_2146-137dup MANE Select | NP_000229.1:n.2146-138_2146-137dup | |
| NM_001204798.2:c.1126-138_1126-137dup | NP_001191727.1:n.1126-138_1126-137dup | |
| NM_172057.3:c.1126-138_1126-137dup | NP_742054.1:n.1126-138_1126-137dup |