Canonical Allele Identifier: CA1139217335
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Linked Data

gnomAD v3: Y-12384771-GGATA-G
gnomAD v4: Y-12384771-GGATA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384780_12384783del , CM000686.2:g.12384780_12384783del GRCh38
NC_000024.9:g.14496575_14496578del , CM000686.1:g.14496575_14496578del GRCh37
NC_000024.8:g.13006583_13006586del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-6026_317-6023del (GYG2P1)
ENST00000689264.1:n.402-6026_402-6023del (GYG2P1)
ENST00000443820.2:n.1408+350_1408+353del (ARSDP1)
ENST00000651802.1:n.450+21609_450+21612del (GYG2P1)
ENST00000651835.1:n.319+22021_319+22024del (GYG2P1)
ENST00000382966.5:n.283+22021_283+22024del (GYG2P1)
ENST00000443820.1:n.856+350_856+353del (ARSDP1)
ENST00000493160.5:n.803-1445_803-1442del (GYG2P1)
XR_001756061.1:n.609-6026_609-6023del
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