Canonical Allele Identifier: CA2580066166

Gene: DRC1

Linked Data

• ClinVar Variation Id: 2000432
• ClinVar RCV Id: RCV002824525
• gnomAD v4: 2-26421273-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26421274dup , CM000664.2:g.26421274dup	GRCh38
NC_000002.11:g.26644142dup , CM000664.1:g.26644142dup	GRCh37
NC_000002.10:g.26497646dup	NCBI36
NG_042824.1:g.24363dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288710.7:c.244-14dup MANE Select	ENSP00000288710.2:n.244-14dup
ENST00000649059.1:c.230-14dup
ENST00000288710.6:c.244-14dup	ENSP00000288710.2:n.244-14dup
ENST00000421869.5:c.244-14dup	ENSP00000414375.1:n.244-14dup
ENST00000487307.5:n.121dup
ENST00000497651.1:n.120dup
NM_145038.3:c.244-14dup	NP_659475.2:n.244-14dup
NM_145038.4:c.244-14dup	NP_659475.2:n.244-14dup
XM_005264637.3:c.-191-14dup	XP_005264694.1:n.-191-14dup
XM_017005271.1:c.-637-14dup	XP_016860760.1:n.-637-14dup
XM_024453218.1:c.-453-14dup	XP_024308986.1:n.-453-14dup
NM_145038.5:c.244-14dup MANE Select	NP_659475.2:n.244-14dup