Canonical Allele Identifier: CA2766238479
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12379898_12379902del , CM000686.2:g.12379898_12379902del GRCh38
NC_000024.9:g.14491701_14491705del , CM000686.1:g.14491701_14491705del GRCh37
NC_000024.8:g.13001709_13001713del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-1152_317-1148del (GYG2P1)
ENST00000689264.1:n.402-1152_402-1148del (GYG2P1)
ENST00000443820.2:n.989+2076_989+2080del (ARSDP1)
ENST00000651802.1:n.450+26483_450+26487del (GYG2P1)
ENST00000651835.1:n.319+26895_319+26899del (GYG2P1)
ENST00000382966.5:n.284-25130_284-25126del (GYG2P1)
ENST00000443820.1:n.438-2438_438-2434del (ARSDP1)
XR_001756061.1:n.609-1152_609-1148del
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