Canonical Allele Identifier: CA2470535986

Gene: GYG2P1 ARSDP1

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384673_12384677delinsTAGAG , CM000686.2:g.12384673_12384677delinsTAGAG	GRCh38
NC_000024.9:g.14496468_14496472delinsTAGAG , CM000686.1:g.14496468_14496472delinsTAGAG	GRCh37
NC_000024.8:g.13006476_13006480delinsTAGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5928_317-5924delinsCTCTA (GYG2P1)
ENST00000689264.1:n.402-5928_402-5924delinsCTCTA (GYG2P1)
ENST00000443820.2:n.1408+243_1408+247delinsTAGAG (ARSDP1)
ENST00000651802.1:n.450+21707_450+21711delinsCTCTA (GYG2P1)
ENST00000651835.1:n.319+22119_319+22123delinsCTCTA (GYG2P1)
ENST00000382966.5:n.283+22119_283+22123delinsCTCTA (GYG2P1)
ENST00000443820.1:n.856+243_856+247delinsTAGAG (ARSDP1)
ENST00000493160.5:n.803-1347_803-1343delinsCTCTA (GYG2P1)
XR_001756061.1:n.609-5928_609-5924delinsCTCTA