Canonical Allele Identifier: CA823270689

Gene: DCDC2

Linked Data

• dbSNP Id: rs1488847533
• gnomAD v4: 6-24204877-GC-G
• MyVariant Identifiers: chr6:g.24205106del (hg19) ; chr6:g.24204878del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24204879del , CM000668.2:g.24204879del	GRCh38
NC_000006.11:g.24205107del , CM000668.1:g.24205107del	GRCh37
NC_000006.10:g.24313086del	NCBI36
NG_012829.1:g.158175del
NG_012829.2:g.183415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.1023+124del MANE Select	ENSP00000367715.3:n.1023+124del
ENST00000378450.6:c.282+124del	ENSP00000367711.3:n.282+124del
ENST00000378454.7:c.1023+124del	ENSP00000367715.3:n.1023+124del
NM_001195610.1:c.1023+124del	NP_001182539.1:n.1023+124del
NM_016356.4:c.1023+124del	NP_057440.2:n.1023+124del
NM_016356.5:c.1023+124del MANE Select	NP_057440.2:n.1023+124del
NM_001195610.2:c.1023+124del	NP_001182539.1:n.1023+124del