Canonical Allele Identifier: CA1962085073
Gene: RCN1 HGNC NCBI
PAX6-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.31863207_31863210delinsGACT , CM000673.2:g.31863207_31863210delinsGACT GRCh38
NC_000011.9:g.31884753_31884756delinsGACT , CM000673.1:g.31884753_31884756delinsGACT GRCh37
NC_000011.8:g.31841329_31841332delinsGACT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000506388.2:n.75-22087_75-22084delinsGACT (RCN1)
ENST00000530348.5:c.-245+50710_-245+50713delinsGACT (RCN1) ENSP00000436482.1:n.-245+50710_-245+50713delinsGACT
ENST00000532942.5:c.101+46568_101+46571delinsGACT (RCN1) ENSP00000436422.1:n.101+46568_101+46571delinsGACT
NR_033971.1:n.75-22087_75-22084delinsGACT (PAX6-AS1)
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