Canonical Allele Identifier: CA1139217168

Gene: GYG2P1 ARSDP1

Linked Data

• dbSNP Id: rs2053260814
• gnomAD v3: Y-12384513-G-GATGA
• gnomAD v4: Y-12384513-G-GATGA

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384516_12384517insAATG , CM000686.2:g.12384516_12384517insAATG	GRCh38
NC_000024.9:g.14496311_14496312insAATG , CM000686.1:g.14496311_14496312insAATG	GRCh37
NC_000024.8:g.13006319_13006320insAATG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5765_317-5764insTCAT (GYG2P1)
ENST00000689264.1:n.402-5765_402-5764insTCAT (GYG2P1)
ENST00000443820.2:n.1408+86_1408+87insAATG (ARSDP1)
ENST00000651802.1:n.450+21870_450+21871insTCAT (GYG2P1)
ENST00000651835.1:n.319+22282_319+22283insTCAT (GYG2P1)
ENST00000382966.5:n.283+22282_283+22283insTCAT (GYG2P1)
ENST00000443820.1:n.856+86_856+87insAATG (ARSDP1)
ENST00000493160.5:n.803-1184_803-1183insTCAT (GYG2P1)
XR_001756061.1:n.609-5765_609-5764insTCAT