Canonical Allele Identifier: CA2470535901
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12383438_12383439delinsTG , CM000686.2:g.12383438_12383439delinsTG GRCh38
NC_000024.9:g.14495241_14495242delinsTG , CM000686.1:g.14495241_14495242delinsTG GRCh37
NC_000024.8:g.13005249_13005250delinsTG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-4690_317-4689delinsCA (GYG2P1)
ENST00000689264.1:n.402-4690_402-4689delinsCA (GYG2P1)
ENST00000443820.2:n.1286+135_1286+136delinsTG (ARSDP1)
ENST00000651802.1:n.450+22945_450+22946delinsCA (GYG2P1)
ENST00000651835.1:n.319+23357_319+23358delinsCA (GYG2P1)
ENST00000382966.5:n.283+23357_283+23358delinsCA (GYG2P1)
ENST00000443820.1:n.734+135_734+136delinsTG (ARSDP1)
ENST00000493160.5:n.803-109_803-108delinsCA (GYG2P1)
XR_001756061.1:n.609-4690_609-4689delinsCA
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