Linked Data
ClinVar Variation Id:
212735
ClinVar RCV Id:
RCV000194544
dbSNP Id:
rs797044605
gnomAD v2:
2-44132908-TG-T
gnomAD v3:
2-43905769-TG-T
gnomAD v4:
2-43905769-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43905772del , CM000664.2:g.43905772del | GRCh38 |
| NC_000002.11:g.44132911del , CM000664.1:g.44132911del | GRCh37 |
| NC_000002.10:g.43986415del | NCBI36 |
| NG_008247.1:g.95236del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000472420.6:n.365del | ||
| ENST00000681993.1:n.838del | ||
| ENST00000682295.1:c.441del | ENSP00000507499.1:n.441del | |
| ENST00000682303.1:c.*3072del | ENSP00000508325.1:n.*3072del | |
| ENST00000682308.1:c.3286del | ENSP00000507056.1:p.His1096ThrfsTer7 | |
| ENST00000682480.1:c.3304del | ENSP00000508344.1:p.His1102ThrfsTer7 | |
| ENST00000682546.1:c.3283del | ENSP00000508188.1:p.His1095ThrfsTer7 | |
| ENST00000682585.1:c.3286del | ENSP00000506885.1:p.His1096ThrfsTer7 | |
| ENST00000682595.1:n.3870del | ||
| ENST00000682607.1:c.1704del | ||
| ENST00000682612.1:c.138del | ||
| ENST00000682779.1:c.3277del | ENSP00000507947.1:p.His1093ThrfsTer7 | |
| ENST00000682845.1:n.2388del | ||
| ENST00000682885.1:c.3241del | ENSP00000508036.1:p.His1081ThrfsTer7 | |
| ENST00000682933.1:n.3360del | ||
| ENST00000683002.1:c.138del | ||
| ENST00000683072.1:n.3870del | ||
| ENST00000683080.1:n.905del | ||
| ENST00000683125.1:c.3394del | ENSP00000507939.1:p.His1132ThrfsTer7 | |
| ENST00000683213.1:c.3289del | ENSP00000507751.1:p.His1097ThrfsTer7 | |
| ENST00000683220.1:c.3316del | ENSP00000507151.1:p.His1106ThrfsTer7 | |
| ENST00000683329.1:n.4089del | ||
| ENST00000683346.1:c.*3161del | ENSP00000507458.1:n.*3161del | |
| ENST00000683409.1:n.1893del | ||
| ENST00000683459.1:n.3873del | ||
| ENST00000683528.1:c.138del | ||
| ENST00000683590.1:c.3034del | ENSP00000506820.1:p.His1012ThrfsTer7 | |
| ENST00000683623.1:c.3193del | ENSP00000507702.1:p.His1065ThrfsTer7 | |
| ENST00000683645.1:n.3837del | ||
| ENST00000683796.1:c.*3158del | ENSP00000508221.1:n.*3158del | |
| ENST00000683802.1:n.6211del | ||
| ENST00000683833.1:c.3277del | ENSP00000506852.1:p.His1093ThrfsTer7 | |
| ENST00000683994.1:c.3286del | ENSP00000507181.1:p.His1096ThrfsTer7 | |
| ENST00000684290.1:c.*822del | ENSP00000507243.1:n.*822del | |
| ENST00000684306.1:c.*3199del | ENSP00000508384.1:n.*3199del | |
| ENST00000684341.1:n.3306del | ||
| ENST00000684383.1:c.*2924del | ENSP00000506863.1:n.*2924del | |
| ENST00000684418.1:n.4467del | ||
| ENST00000684454.1:n.2636del | ||
| ENST00000684619.1:c.*3158del | ENSP00000508088.1:n.*3158del | |
| ENST00000684743.1:n.4317del | ||
| ENST00000260665.12:c.3286del MANE Select | ENSP00000260665.7:p.His1096ThrfsTer7 | |
| ENST00000260665.11:c.3286del | ENSP00000260665.7:p.His1096ThrfsTer7 | |
| NM_133259.3:c.3286del | NP_573566.2:p.His1096ThrfsTer7 | |
| XM_006711915.2:c.3208del | XP_006711978.1:p.His1070ThrfsTer7 | |
| XM_011532473.1:c.3286del | XP_011530775.1:p.His1096ThrfsTer7 | |
| XM_011532474.1:c.3286del | XP_011530776.1:p.His1096ThrfsTer7 | |
| XM_017003117.1:c.3208del | XP_016858606.1:p.His1070ThrfsTer7 | |
| XR_002958896.1:n.3328del | ||
| NM_133259.4:c.3286del MANE Select | NP_573566.2:p.His1096ThrfsTer7 |