Canonical Allele Identifier: CA2824871262
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12379736_12379737insCGC , CM000686.2:g.12379736_12379737insCGC GRCh38
NC_000024.9:g.14491539_14491540insCGC , CM000686.1:g.14491539_14491540insCGC GRCh37
NC_000024.8:g.13001547_13001548insCGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-988_317-987insGCG (GYG2P1)
ENST00000689264.1:n.402-988_402-987insGCG (GYG2P1)
ENST00000443820.2:n.989+1914_989+1915insCGC (ARSDP1)
ENST00000651802.1:n.450+26647_450+26648insGCG (GYG2P1)
ENST00000651835.1:n.319+27059_319+27060insGCG (GYG2P1)
ENST00000382966.5:n.284-24966_284-24965insGCG (GYG2P1)
ENST00000443820.1:n.438-2600_438-2599insCGC (ARSDP1)
XR_001756061.1:n.609-988_609-987insGCG
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