Canonical Allele Identifier: CA1139217277

Gene: GYG2P1 ARSDP1

Linked Data

• dbSNP Id: rs2053261011
• gnomAD v3: Y-12384659-GGATA-G
• gnomAD v4: Y-12384659-GGATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384667_12384670del , CM000686.2:g.12384667_12384670del	GRCh38
NC_000024.9:g.14496462_14496465del , CM000686.1:g.14496462_14496465del	GRCh37
NC_000024.8:g.13006470_13006473del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5914_317-5911del (GYG2P1)
ENST00000689264.1:n.402-5914_402-5911del (GYG2P1)
ENST00000443820.2:n.1408+237_1408+240del (ARSDP1)
ENST00000651802.1:n.450+21721_450+21724del (GYG2P1)
ENST00000651835.1:n.319+22133_319+22136del (GYG2P1)
ENST00000382966.5:n.283+22133_283+22136del (GYG2P1)
ENST00000443820.1:n.856+237_856+240del (ARSDP1)
ENST00000493160.5:n.803-1333_803-1330del (GYG2P1)
XR_001756061.1:n.609-5914_609-5911del