Linked Data
dbSNP Id:
rs1644522667
gnomAD v3:
1-21563825-T-TGAGGGGA
gnomAD v4:
1-21563825-T-TGAGGGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21563831_21563837dup , CM000663.2:g.21563831_21563837dup | GRCh38 |
| NC_000001.10:g.21890324_21890330dup , CM000663.1:g.21890324_21890330dup | GRCh37 |
| NC_000001.9:g.21762911_21762917dup | NCBI36 |
| NG_008940.1:g.59467_59473dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.473-210_473-204dup MANE Select | ENSP00000363973.3:n.473-210_473-204dup | |
| ENST00000374832.5:c.473-210_473-204dup | ENSP00000363965.1:n.473-210_473-204dup | |
| ENST00000374840.7:c.473-210_473-204dup | ENSP00000363973.3:n.473-210_473-204dup | |
| ENST00000468526.1:n.533-210_533-204dup | ||
| ENST00000539907.5:c.242-210_242-204dup | ENSP00000437674.1:n.242-210_242-204dup | |
| ENST00000540617.5:c.308-210_308-204dup | ENSP00000442672.1:n.308-210_308-204dup | |
| NM_000478.4:c.473-210_473-204dup | NP_000469.3:n.473-210_473-204dup | |
| NM_001127501.2:c.308-210_308-204dup | NP_001120973.2:n.308-210_308-204dup | |
| NM_001177520.1:c.242-210_242-204dup | NP_001170991.1:n.242-210_242-204dup | |
| XM_005245818.1:c.473-210_473-204dup | XP_005245875.1:n.473-210_473-204dup | |
| XM_005245820.2:c.473-210_473-204dup | XP_005245877.1:n.473-210_473-204dup | |
| XM_006710546.1:c.473-210_473-204dup | XP_006710609.1:n.473-210_473-204dup | |
| NM_000478.5:c.473-210_473-204dup | NP_000469.3:n.473-210_473-204dup | |
| NM_001127501.3:c.308-210_308-204dup | NP_001120973.2:n.308-210_308-204dup | |
| NM_001177520.2:c.242-210_242-204dup | NP_001170991.1:n.242-210_242-204dup | |
| XM_006710546.3:c.473-210_473-204dup | XP_006710609.1:n.473-210_473-204dup | |
| XM_017000903.1:c.317-210_317-204dup | XP_016856392.1:n.317-210_317-204dup | |
| NM_000478.6:c.473-210_473-204dup MANE Select | NP_000469.3:n.473-210_473-204dup | |
| NM_001127501.4:c.308-210_308-204dup | NP_001120973.2:n.308-210_308-204dup | |
| NM_001177520.3:c.242-210_242-204dup | NP_001170991.1:n.242-210_242-204dup | |
| NM_001369803.2:c.473-210_473-204dup | NP_001356732.1:n.473-210_473-204dup | |
| NM_001369804.2:c.473-210_473-204dup | NP_001356733.1:n.473-210_473-204dup | |
| NM_001369805.2:c.473-210_473-204dup | NP_001356734.1:n.473-210_473-204dup |