Linked Data
ClinVar Variation Id:
2861192
ClinVar RCV Id:
RCV003631059
dbSNP Id:
rs1313637977
gnomAD v2:
15-75188613-C-CT
gnomAD v4:
15-74896272-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74896273dup , CM000677.2:g.74896273dup | GRCh38 |
| NC_000015.9:g.75188614dup , CM000677.1:g.75188614dup | GRCh37 |
| NC_000015.8:g.72975667dup | NCBI36 |
| NG_008921.1:g.11205dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.792dup MANE Select | ENSP00000318318.6:p.Gly265TrpfsTer? | |
| ENST00000323744.10:c.609dup | ENSP00000318192.6:p.Gly204TrpfsTer? | |
| ENST00000352410.8:c.792dup | ENSP00000318318.6:p.Gly265TrpfsTer? | |
| ENST00000535694.5:c.642dup | ENSP00000440447.1:p.Gly215TrpfsTer? | |
| ENST00000562606.5:c.732dup | ENSP00000457020.1:p.Gly245TrpfsTer19 | |
| ENST00000562800.5:c.256-1266dup | ENSP00000457619.1:n.256-1266dup | |
| ENST00000563422.5:c.792dup | ENSP00000457885.1:p.Gly265TrpfsTer19 | |
| ENST00000563786.5:c.732dup | ENSP00000455241.1:p.Gly245TrpfsTer? | |
| ENST00000564003.5:c.459dup | ENSP00000454312.1:p.Gly154TrpfsTer19 | |
| ENST00000566377.5:c.792dup | ENSP00000455405.1:p.Gly265TrpfsTer? | |
| ENST00000566556.1:n.840dup | ||
| ENST00000567177.1:c.570dup | ENSP00000457013.1:p.Gly191TrpfsTer? | |
| ENST00000569931.5:c.732dup | ENSP00000455161.1:p.Gly245TrpfsTer? | |
| NM_001289155.1:c.792dup | NP_001276084.1:p.Gly265TrpfsTer? | |
| NM_001289156.1:c.642dup | NP_001276085.1:p.Gly215TrpfsTer? | |
| NM_001289157.1:c.609dup | NP_001276086.1:p.Gly204TrpfsTer? | |
| NM_002435.2:c.792dup | NP_002426.1:p.Gly265TrpfsTer? | |
| XM_011521592.1:c.780dup | XP_011519894.1:p.Gly261TrpfsTer? | |
| XM_011521593.1:c.732dup | XP_011519895.1:p.Gly245TrpfsTer? | |
| NM_001330372.1:c.732dup | NP_001317301.1:p.Gly245TrpfsTer? | |
| XM_017022208.1:c.732dup | XP_016877697.1:p.Gly245TrpfsTer? | |
| XM_017022209.2:c.642dup | XP_016877698.1:p.Gly215TrpfsTer? | |
| NM_002435.3:c.792dup MANE Select | NP_002426.1:p.Gly265TrpfsTer? | |
| NM_001289155.2:c.792dup | NP_001276084.1:p.Gly265TrpfsTer? | |
| NM_001289156.2:c.642dup | NP_001276085.1:p.Gly215TrpfsTer? | |
| NM_001289157.2:c.609dup | NP_001276086.1:p.Gly204TrpfsTer? | |
| NM_001330372.2:c.732dup | NP_001317301.1:p.Gly245TrpfsTer? |