Linked Data
dbSNP Id:
rs1272045757
gnomAD v2:
19-39056187-GGCGAGGGTGCCA-G
gnomAD v3:
19-38565547-GGCGAGGGTGCCA-G
gnomAD v4:
19-38565547-GGCGAGGGTGCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38565555_38565566del , CM000681.2:g.38565555_38565566del | GRCh38 |
| NC_000019.9:g.39056195_39056206del , CM000681.1:g.39056195_39056206del | GRCh37 |
| NC_000019.8:g.43748035_43748046del | NCBI36 |
| NG_008866.1:g.136856_136867del , LRG_766:g.136856_136867del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.157_168del | ||
| ENST00000688602.1:c.1631_1642del | ||
| ENST00000689936.1:c.1613_1624del | ||
| ENST00000359596.8:c.13221_13232del MANE Select | ENSP00000352608.2:p.Ala4408_Gly4411del | |
| ENST00000355481.8:c.13206_13217del | ENSP00000347667.3:p.Ala4403_Gly4406del | |
| ENST00000359596.7:c.13221_13232del | ENSP00000352608.2:p.Ala4408_Gly4411del | |
| ENST00000360985.7:c.13203_13214del | ENSP00000354254.4:p.Ala4402_Gly4405del | |
| NM_000540.2:c.13221_13232del , LRG_766t1:c.13221_13232del | NP_000531.2:p.Ala4408_Gly4411del | |
| NM_001042723.1:c.13206_13217del | NP_001036188.1:p.Ala4403_Gly4406del | |
| XM_006723317.1:c.13203_13214del | XP_006723380.1:p.Ala4402_Gly4405del | |
| XM_006723319.1:c.13188_13199del | XP_006723382.1:p.Ala4397_Gly4400del | |
| XM_011527204.1:c.13218_13229del | XP_011525506.1:p.Ala4407_Gly4410del | |
| XM_011527205.1:c.13221_13232del | XP_011525507.1:p.Ala4408_Gly4411del | |
| XM_006723317.2:c.13203_13214del | XP_006723380.1:p.Ala4402_Gly4405del | |
| XM_006723319.2:c.13188_13199del | XP_006723382.1:p.Ala4397_Gly4400del | |
| XM_011527205.2:c.13221_13232del | XP_011525507.1:p.Ala4408_Gly4411del | |
| NM_000540.3:c.13221_13232del MANE Select | NP_000531.2:p.Ala4408_Gly4411del | |
| NM_001042723.2:c.13206_13217del | NP_001036188.1:p.Ala4403_Gly4406del |