Canonical Allele Identifier: CA2470535055
Gene: ARSDP1 HGNC NCBI
GYG2P1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12363606_12363609delinsTGCA , CM000686.2:g.12363606_12363609delinsTGCA GRCh38
NC_000024.9:g.14484337_14484340delinsTGCA , CM000686.1:g.14484337_14484340delinsTGCA GRCh37
NC_000024.8:g.12994345_12994348delinsTGCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000443820.2:n.193+1232_193+1235delinsTGCA (ARSDP1)
ENST00000651802.1:n.450+42775_450+42778delinsTGCA (GYG2P1)
ENST00000651835.1:n.319+43187_319+43190delinsTGCA (GYG2P1)
ENST00000382966.5:n.284-8838_284-8835delinsTGCA (GYG2P1)
ENST00000443820.1:n.193+1232_193+1235delinsTGCA (ARSDP1)
XR_001756060.1:n.104_107delinsTGCA