Canonical Allele Identifier: CA10631932

Gene: NODAL

Linked Data

• ClinVar Variation Id: 300287
• ClinVar RCV Id: RCV000272395 ; RCV000306394
• dbSNP Id: rs886047099
• MyVariant Identifiers: chr10:g.72191945dupT (hg19) ; chr10:g.72191944_72191945insT (hg19) ; chr10:g.70432189dupT (hg38) ; chr10:g.70432188_70432189insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70432191dup , CM000672.2:g.70432191dup	GRCh38
NC_000010.10:g.72191947dup , CM000672.1:g.72191947dup	GRCh37
NC_000010.9:g.71861953dup	NCBI36
NG_012448.1:g.14521dup
NG_012448.2:g.20760dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000287139.8:c.*747dup MANE Select	ENSP00000287139.3:n.*747dup
NM_018055.4:c.*747dup	NP_060525.3:n.*747dup
NM_001329906.1:c.*747dup	NP_001316835.1:n.*747dup
NM_018055.5:c.*747dup MANE Select	NP_060525.3:n.*747dup
NM_001329906.2:c.*747dup	NP_001316835.1:n.*747dup