Linked Data
ClinVar Variation Id:
180688
dbSNP Id:
rs757704417
ExAC:
6:24357854 GAC / G
gnomAD v2:
6-24357854-GAC-G
gnomAD v3:
6-24357626-GAC-G
gnomAD v4:
6-24357626-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24357629_24357630del , CM000668.2:g.24357629_24357630del | GRCh38 |
| NC_000006.11:g.24357857_24357858del , CM000668.1:g.24357857_24357858del | GRCh37 |
| NC_000006.10:g.24465836_24465837del | NCBI36 |
| NG_012829.1:g.5425_5426del | |
| NG_012829.2:g.30665_30666del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274766.2:c.-11_-10del (KAAG1) | ENSP00000274766.1:n.-11_-10del | |
| ENST00000378454.8:c.123_124del (DCDC2) MANE Select | ENSP00000367715.3:p.Ser42GlnfsTer? | |
| ENST00000274766.1:c.-11_-10del (KAAG1) | ENSP00000274766.1:n.-11_-10del | |
| ENST00000378454.7:c.123_124del (DCDC2) | ENSP00000367715.3:p.Ser42GlnfsTer? | |
| ENST00000436313.1:c.26_27del (DCDC2) | ||
| NM_001195610.1:c.123_124del (DCDC2) | NP_001182539.1:p.Ser42GlnfsTer? | |
| NM_016356.4:c.123_124del (DCDC2) | NP_057440.2:p.Ser42GlnfsTer? | |
| NM_181337.3:c.-11_-10del (KAAG1) | NP_851854.1:n.-11_-10del | |
| NM_016356.5:c.123_124del (DCDC2) MANE Select | NP_057440.2:p.Ser42GlnfsTer? | |
| NM_181337.4:c.-11_-10del (KAAG1) | NP_851854.1:n.-11_-10del | |
| NM_001195610.2:c.123_124del (DCDC2) | NP_001182539.1:p.Ser42GlnfsTer? | |
| NR_174942.1:n.727_728del (KAAG1) |