Canonical Allele Identifier: CA2470535985

Gene: GYG2P1 ARSDP1

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384659_12384663delinsGGATA , CM000686.2:g.12384659_12384663delinsGGATA	GRCh38
NC_000024.9:g.14496454_14496458delinsGGATA , CM000686.1:g.14496454_14496458delinsGGATA	GRCh37
NC_000024.8:g.13006462_13006466delinsGGATA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5914_317-5910delinsTATCC (GYG2P1)
ENST00000689264.1:n.402-5914_402-5910delinsTATCC (GYG2P1)
ENST00000443820.2:n.1408+229_1408+233delinsGGATA (ARSDP1)
ENST00000651802.1:n.450+21721_450+21725delinsTATCC (GYG2P1)
ENST00000651835.1:n.319+22133_319+22137delinsTATCC (GYG2P1)
ENST00000382966.5:n.283+22133_283+22137delinsTATCC (GYG2P1)
ENST00000443820.1:n.856+229_856+233delinsGGATA (ARSDP1)
ENST00000493160.5:n.803-1333_803-1329delinsTATCC (GYG2P1)
XR_001756061.1:n.609-5914_609-5910delinsTATCC