Linked Data
dbSNP Id:
rs763265336
ExAC:
8:101932937 TCTC / T
gnomAD v2:
8-101932937-TCTC-T
gnomAD v3:
8-100920709-TCTC-T
gnomAD v4:
8-100920709-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100920712_100920714del , CM000670.2:g.100920712_100920714del | GRCh38 |
| NC_000008.10:g.101932940_101932942del , CM000670.1:g.101932940_101932942del | GRCh37 |
| NC_000008.9:g.102002116_102002118del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395958.6:c.719_721del MANE Select | ENSP00000379288.2:p.Gly240del | |
| ENST00000353245.7:c.719_721del | ENSP00000309503.3:p.Gly240del | |
| ENST00000395948.6:c.488_490del | ENSP00000379278.2:p.Gly163del | |
| ENST00000395951.7:c.719_721del | ENSP00000379281.3:p.Gly240del | |
| ENST00000395953.6:c.719_721del | ENSP00000379283.2:p.Gly240del | |
| ENST00000395956.7:c.719_721del | ENSP00000379286.3:p.Gly240del | |
| ENST00000395957.6:c.719_721del | ENSP00000379287.2:p.Gly240del | |
| ENST00000395958.5:c.719_721del | ENSP00000379288.2:p.Gly240del | |
| ENST00000419477.6:c.719_721del | ENSP00000395114.2:p.Gly240del | |
| ENST00000457309.2:c.719_721del | ENSP00000398599.1:p.Gly240del | |
| ENST00000521309.5:c.359_361del | ENSP00000429623.1:p.Gly120del | |
| ENST00000522542.5:c.494_496del | ENSP00000430072.1:p.Gly165del | |
| ENST00000522819.5:c.359_361del | ENSP00000428775.1:p.Gly120del | |
| ENST00000523848.5:c.374_376del | ENSP00000428860.1:p.Gly125del | |
| NM_001135699.1:c.719_721del | NP_001129171.1:p.Gly240del | |
| NM_001135700.1:c.719_721del | NP_001129172.1:p.Gly240del | |
| NM_001135701.1:c.719_721del | NP_001129173.1:p.Gly240del | |
| NM_001135702.1:c.719_721del | NP_001129174.1:p.Gly240del | |
| NM_003406.3:c.719_721del | NP_003397.1:p.Gly240del | |
| NM_145690.2:c.719_721del | NP_663723.1:p.Gly240del | |
| XM_005251061.2:c.719_721del | XP_005251118.1:p.Gly240del | |
| XM_005251062.2:c.719_721del | XP_005251119.1:p.Gly240del | |
| XM_005251063.2:c.719_721del | XP_005251120.1:p.Gly240del | |
| XM_011517289.1:c.719_721del | XP_011515591.1:p.Gly240del | |
| XM_005251061.3:c.719_721del | XP_005251118.1:p.Gly240del | |
| XM_005251063.3:c.719_721del | XP_005251120.1:p.Gly240del | |
| XM_017013810.2:c.719_721del | XP_016869299.1:p.Gly240del | |
| XM_017013811.1:c.719_721del | XP_016869300.1:p.Gly240del | |
| XM_024447266.1:c.719_721del | XP_024303034.1:p.Gly240del | |
| NM_145690.3:c.719_721del MANE Select | NP_663723.1:p.Gly240del | |
| NM_001135700.2:c.719_721del | NP_001129172.1:p.Gly240del | |
| NM_001135701.2:c.719_721del | NP_001129173.1:p.Gly240del | |
| NM_001135702.2:c.719_721del | NP_001129174.1:p.Gly240del | |
| NM_003406.4:c.719_721del | NP_003397.1:p.Gly240del | |
| NM_001135699.2:c.719_721del | NP_001129171.1:p.Gly240del |