Canonical Allele Identifier: CA2683077841

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961062-TGCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961063_65961066del , CM000669.2:g.65961063_65961066del	GRCh38
NC_000007.13:g.65426050_65426053del , CM000669.1:g.65426050_65426053del	GRCh37
NC_000007.12:g.65063485_65063488del	NCBI36
NG_016197.1:g.26249_26252del
NG_051954.1:g.92965_92968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790-3_1790del
ENST00000304895.8:c.1790-3_1790del
ENST00000421103.5:c.1352-3_1352del
ENST00000430730.5:c.*1057-3_*1057del
ENST00000447929.5:c.*1170-3_*1170del
ENST00000466883.5:n.2180-3_2180del
NM_000181.3:c.1790-3_1790del
NM_001284290.1:c.1352-3_1352del
NM_001293104.1:c.1220-3_1220del
NM_001293105.1:c.1133-3_1133del
NR_120531.1:n.1836-3_1836del
XM_005250297.3:c.1637-3_1637del
XM_011516113.1:c.1289-3_1289del
XM_011516114.1:c.1118-3_1118del
XM_005250297.4:c.1637-3_1637del
XM_011516114.2:c.1118-3_1118del
XM_017012091.1:c.1136-3_1136del
XM_017012092.1:c.1067-3_1067del
XM_017012093.2:c.965-3_965del
XR_001744658.2:n.1597-3_1597del
XR_001744659.2:n.1710-3_1710del
XR_001744660.2:n.1642-3_1642del
XR_001744661.2:n.1557-3_1557del
XR_927461.3:n.1795-3_1795del
NM_000181.4:c.1790-3_1790del
NM_001284290.2:c.1352-3_1352del
NM_001293104.2:c.1220-3_1220del
NM_001293105.2:c.1133-3_1133del
NR_120531.2:n.1735-3_1735del