Canonical Allele Identifier: CA2766238826

Gene: GYG2P1 ARSDP1

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12387069del , CM000686.2:g.12387069del	GRCh38
NC_000024.9:g.14498864del , CM000686.1:g.14498864del	GRCh37
NC_000024.8:g.13008872del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-8318del (GYG2P1)
ENST00000689264.1:n.402-8318del (GYG2P1)
ENST00000443820.2:n.1508del (ARSDP1)
ENST00000651802.1:n.450+19317del (GYG2P1)
ENST00000651835.1:n.319+19729del (GYG2P1)
ENST00000382966.5:n.283+19729del (GYG2P1)
ENST00000443820.1:n.956del (ARSDP1)
ENST00000493160.5:n.803-3737del (GYG2P1)
XR_001756061.1:n.609-8318del