Canonical Allele Identifier: CA136622199
Gene: DCDC2 HGNC NCBI
gnomAD v2:
6:24178476 CTTGA / C
gnomAD v3:
6:24178248 CTTGA / C
gnomAD v4:
chr6-24178248-CTTGA-C
Joint Max Group AF 0.00179417 (AFR)
Genomes Max Group AF 0.00186875 (AFR)
Exomes Max Group AF 0.00143227 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178251_24178254del , CM000668.2:g.24178251_24178254del GRCh38
NC_000006.11:g.24178479_24178482del , CM000668.1:g.24178479_24178482del GRCh37
NC_000006.10:g.24286458_24286461del NCBI36
NG_012829.1:g.184801_184804del
NG_012829.2:g.210041_210044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1326+78_1326+81del MANE Select ENSP00000367715.3:n.1326+78_1326+81del
ENST00000378450.6:c.585+78_585+81del ENSP00000367711.3:n.585+78_585+81del
ENST00000378454.7:c.1326+78_1326+81del ENSP00000367715.3:n.1326+78_1326+81del
NM_001195610.1:c.1326+78_1326+81del NP_001182539.1:n.1326+78_1326+81del
NM_016356.4:c.1326+78_1326+81del NP_057440.2:n.1326+78_1326+81del
NM_016356.5:c.1326+78_1326+81del MANE Select NP_057440.2:n.1326+78_1326+81del
NM_001195610.2:c.1326+78_1326+81del NP_001182539.1:n.1326+78_1326+81del
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