Linked Data
dbSNP Id:
rs1185730197
gnomAD v2:
19-11071698-AGGCG-A
gnomAD v3:
19-10961022-AGGCG-A
gnomAD v4:
19-10961022-AGGCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10961031_10961034del , CM000681.2:g.10961031_10961034del | GRCh38 |
| NC_000019.9:g.11071707_11071710del , CM000681.1:g.11071707_11071710del | GRCh37 |
| NC_000019.8:g.10932707_10932710del | NCBI36 |
| NG_011556.2:g.5110_5113del | |
| NG_011556.3:g.5100_5103del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711079.1:c.-175_-172del | ENSP00000518564.1:n.-175_-172del | |
| ENST00000429416.8:c.-251_-248del | ENSP00000395654.1:n.-251_-248del | |
| ENST00000642628.1:c.-175_-172del | ENSP00000496498.1:n.-175_-172del | |
| ENST00000642726.1:c.-172_-169del | ENSP00000494353.1:n.-172_-169del | |
| ENST00000643296.1:c.-175_-172del | ENSP00000496635.1:n.-175_-172del | |
| ENST00000643549.1:c.-172_-169del | ENSP00000493975.1:n.-172_-169del | |
| ENST00000644737.1:c.-172_-169del | ENSP00000495548.1:n.-172_-169del | |
| ENST00000644760.1:c.-248_-245del | ENSP00000496682.1:n.-248_-245del | |
| ENST00000646484.1:c.-172_-169del | ENSP00000495536.1:n.-172_-169del | |
| ENST00000646510.1:c.-251_-248del | ENSP00000494772.1:n.-251_-248del | |
| ENST00000646693.1:c.-172_-169del | ENSP00000495368.1:n.-172_-169del | |
| ENST00000647230.1:c.-175_-172del | ENSP00000494676.1:n.-175_-172del | |
| ENST00000344626.8:c.-175_-172del | ENSP00000343896.4:n.-175_-172del | |
| ENST00000429416.7:c.-251_-248del | ENSP00000395654.1:n.-251_-248del | |
| NM_001128844.1:c.-251_-248del | NP_001122316.1:n.-251_-248del | |
| NM_003072.3:c.-175_-172del | NP_003063.2:n.-175_-172del | |
| XM_005260028.2:c.-175_-172del | XP_005260085.1:n.-175_-172del | |
| XM_005260030.2:c.-175_-172del | XP_005260087.1:n.-175_-172del | |
| XM_005260031.2:c.-175_-172del | XP_005260088.1:n.-175_-172del | |
| XM_005260032.2:c.-175_-172del | XP_005260089.1:n.-175_-172del | |
| XM_005260033.2:c.-175_-172del | XP_005260090.1:n.-175_-172del | |
| XM_005260034.2:c.-175_-172del | XP_005260091.1:n.-175_-172del | |
| XM_005260035.2:c.-175_-172del | XP_005260092.1:n.-175_-172del | |
| XM_006722845.2:c.-172_-169del | XP_006722908.1:n.-172_-169del | |
| XM_006722847.2:c.-175_-172del | XP_006722910.1:n.-175_-172del | |
| XM_011528198.1:c.-251_-248del | XP_011526500.1:n.-251_-248del | |
| XM_024451659.1:c.-175_-172del | XP_024307427.1:n.-175_-172del | |
| XM_024451660.1:c.-175_-172del | XP_024307428.1:n.-175_-172del | |
| XM_024451661.1:c.-175_-172del | XP_024307429.1:n.-175_-172del | |
| XM_024451662.1:c.-175_-172del | XP_024307430.1:n.-175_-172del | |
| XM_024451663.1:c.-175_-172del | XP_024307431.1:n.-175_-172del | |
| XM_024451664.1:c.-175_-172del | XP_024307432.1:n.-175_-172del | |
| XM_024451665.1:c.-175_-172del | XP_024307433.1:n.-175_-172del | |
| XM_024451666.1:c.-175_-172del | XP_024307434.1:n.-175_-172del | |
| XM_024451667.1:c.-175_-172del | XP_024307435.1:n.-175_-172del |