Linked Data
dbSNP Id:
rs374097316
gnomAD v2:
4-1803520-GTGA-G
gnomAD v3:
4-1801793-GTGA-G
gnomAD v4:
4-1801793-GTGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1801794_1801796del , CM000666.2:g.1801794_1801796del | GRCh38 |
| NC_000004.11:g.1803521_1803523del , CM000666.1:g.1803521_1803523del | GRCh37 |
| NC_000004.10:g.1773319_1773321del | NCBI36 |
| NG_012632.1:g.13483_13485del , LRG_1021:g.13483_13485del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340107.9:c.740-41_740-39del | ENSP00000339824.4:n.740-41_740-39del | |
| ENST00000260795.8:c.740-41_740-39del | ENSP00000260795.3:n.740-41_740-39del | |
| ENST00000352904.6:c.740-41_740-39del | ENSP00000231803.1:n.740-41_740-39del | |
| ENST00000412135.7:c.728-41_728-39del | ENSP00000412903.3:n.728-41_728-39del | |
| ENST00000440486.8:c.740-41_740-39del MANE Select | ENSP00000414914.2:n.740-41_740-39del | |
| ENST00000481110.7:c.740-41_740-39del | ENSP00000420533.2:n.740-41_740-39del | |
| ENST00000260795.6:c.740-41_740-39del | ENSP00000260795.2:n.740-41_740-39del | |
| ENST00000340107.8:c.740-41_740-39del | ENSP00000339824.4:n.740-41_740-39del | |
| ENST00000352904.5:c.740-41_740-39del | ENSP00000231803.1:n.740-41_740-39del | |
| ENST00000412135.6:c.740-41_740-39del | ENSP00000412903.2:n.740-41_740-39del | |
| ENST00000440486.6:c.740-41_740-39del | ENSP00000414914.2:n.740-41_740-39del | |
| ENST00000474521.1:n.116-41_116-39del | ||
| ENST00000481110.6:c.740-41_740-39del | ENSP00000420533.2:n.740-41_740-39del | |
| ENST00000507588.1:c.200-41_200-39del | ENSP00000427289.1:n.200-41_200-39del | |
| ENST00000613647.4:c.740-41_740-39del | ENSP00000479472.1:n.740-41_740-39del | |
| NM_000142.4:c.740-41_740-39del , LRG_1021t1:c.740-41_740-39del | NP_000133.1:n.740-41_740-39del | |
| NM_001163213.1:c.740-41_740-39del , LRG_1021t2:c.740-41_740-39del | NP_001156685.1:n.740-41_740-39del | |
| NM_022965.3:c.740-41_740-39del | NP_075254.1:n.740-41_740-39del | |
| XM_006713868.1:c.740-41_740-39del | XP_006713931.1:n.740-41_740-39del | |
| XM_006713869.1:c.740-41_740-39del | XP_006713932.1:n.740-41_740-39del | |
| XM_006713870.1:c.740-41_740-39del | XP_006713933.1:n.740-41_740-39del | |
| XM_006713871.1:c.740-41_740-39del | XP_006713934.1:n.740-41_740-39del | |
| XM_006713872.1:c.740-41_740-39del | XP_006713935.1:n.740-41_740-39del | |
| XM_006713873.1:c.740-41_740-39del | XP_006713936.1:n.740-41_740-39del | |
| XM_011513420.1:c.740-41_740-39del | XP_011511722.1:n.740-41_740-39del | |
| XM_011513422.1:c.740-41_740-39del | XP_011511724.1:n.740-41_740-39del | |
| NM_001354809.1:c.740-41_740-39del | NP_001341738.1:n.740-41_740-39del | |
| NM_001354810.1:c.740-41_740-39del | NP_001341739.1:n.740-41_740-39del | |
| NR_148971.1:n.996-41_996-39del | ||
| NM_001354809.2:c.740-41_740-39del | NP_001341738.1:n.740-41_740-39del | |
| NM_001354810.2:c.740-41_740-39del | NP_001341739.1:n.740-41_740-39del | |
| NR_148971.2:n.1015-41_1015-39del | ||
| NM_000142.5:c.740-41_740-39del MANE Select | NP_000133.1:n.740-41_740-39del | |
| NM_001163213.2:c.740-41_740-39del | NP_001156685.1:n.740-41_740-39del | |
| NM_022965.4:c.740-41_740-39del | NP_075254.1:n.740-41_740-39del |