Canonical Allele Identifier: CA1139257542
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

dbSNP Id: rs2053259963
gnomAD v3: Y-12383438-TG-T
gnomAD v4: Y-12383438-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12383439del , CM000686.2:g.12383439del GRCh38
NC_000024.9:g.14495242del , CM000686.1:g.14495242del GRCh37
NC_000024.8:g.13005250del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-4690del (GYG2P1)
ENST00000689264.1:n.402-4690del (GYG2P1)
ENST00000443820.2:n.1286+136del (ARSDP1)
ENST00000651802.1:n.450+22945del (GYG2P1)
ENST00000651835.1:n.319+23357del (GYG2P1)
ENST00000382966.5:n.283+23357del (GYG2P1)
ENST00000443820.1:n.734+136del (ARSDP1)
ENST00000493160.5:n.803-109del (GYG2P1)
XR_001756061.1:n.609-4690del
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