Canonical Allele Identifier: CA1139217283

Gene: GYG2P1 ARSDP1

Linked Data

• dbSNP Id: rs2053261031
• gnomAD v3: Y-12384673-TAGAG-T
• gnomAD v4: Y-12384673-TAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384677_12384680del , CM000686.2:g.12384677_12384680del	GRCh38
NC_000024.9:g.14496472_14496475del , CM000686.1:g.14496472_14496475del	GRCh37
NC_000024.8:g.13006480_13006483del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5928_317-5925del (GYG2P1)
ENST00000689264.1:n.402-5928_402-5925del (GYG2P1)
ENST00000443820.2:n.1408+247_1408+250del (ARSDP1)
ENST00000651802.1:n.450+21707_450+21710del (GYG2P1)
ENST00000651835.1:n.319+22119_319+22122del (GYG2P1)
ENST00000382966.5:n.283+22119_283+22122del (GYG2P1)
ENST00000443820.1:n.856+247_856+250del (ARSDP1)
ENST00000493160.5:n.803-1347_803-1344del (GYG2P1)
XR_001756061.1:n.609-5928_609-5925del