Linked Data
dbSNP Id:
rs58633601
gnomAD v2:
6-15628021-G-GAAAAAAAAAAAAA
gnomAD v3:
6-15627790-G-GAAAAAAAAAAAAA
gnomAD v4:
6-15627790-G-GAAAAAAAAAAAAA
MyVariant Identifiers:
chr6:g.15628023_15628024insAAAAAAAAAAAAA (hg19)
chr6:g.15627792_15627793insAAAAAAAAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15627802_15627803insAAAAAAAAAAAAA , CM000668.2:g.15627802_15627803insAAAAAAAAAAAAA | GRCh38 |
| NC_000006.11:g.15628033_15628034insAAAAAAAAAAAAA , CM000668.1:g.15628033_15628034insAAAAAAAAAAAAA | GRCh37 |
| NC_000006.10:g.15736012_15736013insAAAAAAAAAAAAA | NCBI36 |
| NG_009309.1:g.40250_40251insTTTTTTTTTTTTT , LRG_588:g.40250_40251insTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344537.10:c.223-316_223-315insTTTTTTTTTTTTT MANE Select | ENSP00000341680.6:n.223-316_223-315insTTT... | |
| ENST00000338950.9:c.223-316_223-315insTTTTTTTTTTTTT | ENSP00000344718.5:n.223-316_223-315insTTT... | |
| ENST00000344537.9:c.223-316_223-315insTTTTTTTTTTTTT | ENSP00000341680.5:n.223-316_223-315insTTT... | |
| ENST00000355917.7:c.172-316_172-315insTTTTTTTTTTTTT | ENSP00000348183.4:n.172-316_172-315insTTT... | |
| ENST00000506844.1:c.*221-316_*221-315insTTTTTTTTTTTTT | ENSP00000424202.1:n.*221-316_*221-315insT... | |
| ENST00000510395.5:c.*133-316_*133-315insTTTTTTTTTTTTT | ENSP00000424685.1:n.*133-316_*133-315insT... | |
| ENST00000511762.2:c.118-316_118-315insTTTTTTTTTTTTT | ENSP00000427473.2:n.118-316_118-315insTTT... | |
| ENST00000513680.5:c.*221-316_*221-315insTTTTTTTTTTTTT | ENSP00000424357.1:n.*221-316_*221-315insT... | |
| ENST00000515875.5:c.172-316_172-315insTTTTTTTTTTTTT | ENSP00000425495.1:n.172-316_172-315insTTT... | |
| ENST00000622898.4:c.118-316_118-315insTTTTTTTTTTTTT | ENSP00000481997.1:n.118-316_118-315insTTT... | |
| NM_001271667.1:c.-21-316_-21-315insTTTTTTTTTTTTT | NP_001258596.1:n.-21-316_-21-315insTTTTTT... | |
| NM_001271668.1:c.172-316_172-315insTTTTTTTTTTTTT | NP_001258597.1:n.172-316_172-315insTTTTTT... | |
| NM_001271669.1:c.118-316_118-315insTTTTTTTTTTTTT | NP_001258598.1:n.118-316_118-315insTTTTTT... | |
| NM_032122.4:c.223-316_223-315insTTTTTTTTTTTTT , LRG_588t1:c.223-316_223-315insTTTTTTTTTTTTT | NP_115498.2:n.223-316_223-315insTTTTTTTTT... | |
| NM_183040.2:c.223-316_223-315insTTTTTTTTTTTTT , LRG_588t2:c.223-316_223-315insTTTTTTTTTTTTT | NP_898861.1:n.223-316_223-315insTTTTTTTTT... | |
| NR_036448.1:n.551-316_551-315insTTTTTTTTTTTTT | ||
| XM_005249447.3:c.184-316_184-315insTTTTTTTTTTTTT | XP_005249504.1:n.184-316_184-315insTTTTTT... | |
| XM_011514936.1:c.133-316_133-315insTTTTTTTTTTTTT | XP_011513238.1:n.133-316_133-315insTTTTTT... | |
| XM_005249447.4:c.184-316_184-315insTTTTTTTTTTTTT | XP_005249504.1:n.184-316_184-315insTTTTTT... | |
| XM_011514936.3:c.133-316_133-315insTTTTTTTTTTTTT | XP_011513238.1:n.133-316_133-315insTTTTTT... | |
| NM_032122.5:c.223-316_223-315insTTTTTTTTTTTTT MANE Select | NP_115498.2:n.223-316_223-315insTTTTTTTTT... | |
| NR_036448.2:n.521-316_521-315insTTTTTTTTTTTTT | ||
| NM_001271667.2:c.-21-316_-21-315insTTTTTTTTTTTTT | NP_001258596.1:n.-21-316_-21-315insTTTTTT... | |
| NM_001271668.2:c.172-316_172-315insTTTTTTTTTTTTT | NP_001258597.1:n.172-316_172-315insTTTTTT... | |
| NM_001271669.2:c.118-316_118-315insTTTTTTTTTTTTT | NP_001258598.1:n.118-316_118-315insTTTTTT... | |
| NR_036448.3:n.521-316_521-315insTTTTTTTTTTTTT |