Canonical Allele Identifier: CA784231709

Gene: DCBLD2

Linked Data

• dbSNP Id: rs770601724
• gnomAD v3: 3-98881477-CA-C
• gnomAD v4: 3-98881477-CA-C
• MyVariant Identifiers: chr3:g.98600322del (hg19) ; chr3:g.98881478del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.98881484del , CM000665.2:g.98881484del	GRCh38
NC_000003.11:g.98600328del , CM000665.1:g.98600328del	GRCh37
NC_000003.10:g.100083018del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326840.11:c.433+62del MANE Select	ENSP00000321573.6:n.433+62del
ENST00000326840.10:c.433+62del	ENSP00000321573.6:n.433+62del
ENST00000326857.9:c.433+62del	ENSP00000321646.9:n.433+62del
ENST00000449482.1:c.115+62del	ENSP00000396803.1:n.115+62del
ENST00000469648.5:n.268+19244del
ENST00000486004.1:n.411+62del
NM_080927.3:c.433+62del	NP_563615.3:n.433+62del
XM_011512419.1:c.205+19644del	XP_011510721.1:n.205+19644del
XM_011512419.2:c.205+19644del	XP_011510721.1:n.205+19644del
XM_024453347.1:c.115+62del	XP_024309115.1:n.115+62del
XM_024453348.1:c.115+62del	XP_024309116.1:n.115+62del
NM_080927.4:c.433+62del MANE Select	NP_563615.3:n.433+62del