Canonical Allele Identifier: CA2824871277
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12379897_12379908del , CM000686.2:g.12379897_12379908del GRCh38
NC_000024.9:g.14491700_14491711del , CM000686.1:g.14491700_14491711del GRCh37
NC_000024.8:g.13001708_13001719del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-1159_317-1148del (GYG2P1)
ENST00000689264.1:n.402-1159_402-1148del (GYG2P1)
ENST00000443820.2:n.989+2075_989+2086del (ARSDP1)
ENST00000651802.1:n.450+26476_450+26487del (GYG2P1)
ENST00000651835.1:n.319+26888_319+26899del (GYG2P1)
ENST00000382966.5:n.284-25137_284-25126del (GYG2P1)
ENST00000443820.1:n.438-2439_438-2428del (ARSDP1)
XR_001756061.1:n.609-1159_609-1148del
Search 100 bp 5'
Search 100 bp 3'