Canonical Allele Identifier: CA1139659452
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 973531
ClinVar RCV Id: RCV001250159
dbSNP Id: rs1761673797

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24204862_24205386del , CM000668.2:g.24204862_24205386del GRCh38
NC_000006.11:g.24205090_24205614del , CM000668.1:g.24205090_24205614del GRCh37
NC_000006.10:g.24313069_24313593del NCBI36
NG_012829.1:g.157668_158192del
NG_012829.2:g.182908_183432del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.923-283_1023+141del
ENST00000378454.7:c.923-283_1023+141del
NM_001195610.1:c.923-283_1023+141del
NM_016356.4:c.923-283_1023+141del
NM_016356.5:c.923-283_1023+141del
NM_001195610.2:c.923-283_1023+141del