Canonical Allele Identifier: CA575259135

Gene: GUSB

Linked Data

• dbSNP Id: rs1489444856
• gnomAD v2: 7-65426048-GTGC-G
• gnomAD v4: 7-65961061-GTGC-G
• MyVariant Identifiers: chr7:g.65426049_65426051del (hg19) ; chr7:g.65961062_65961064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961063_65961065del , CM000669.2:g.65961063_65961065del	GRCh38
NC_000007.13:g.65426050_65426052del , CM000669.1:g.65426050_65426052del	GRCh37
NC_000007.12:g.65063485_65063487del	NCBI36
NG_016197.1:g.26251_26253del
NG_051954.1:g.92965_92967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790-1_1791del
ENST00000304895.8:c.1790-1_1791del
ENST00000421103.5:c.1352-1_1353del
ENST00000430730.5:c.*1057-1_*1058del
ENST00000447929.5:c.*1170-1_*1171del
ENST00000466883.5:n.2180-1_2181del
NM_000181.3:c.1790-1_1791del
NM_001284290.1:c.1352-1_1353del
NM_001293104.1:c.1220-1_1221del
NM_001293105.1:c.1133-1_1134del
NR_120531.1:n.1836-1_1837del
XM_005250297.3:c.1637-1_1638del
XM_011516113.1:c.1289-1_1290del
XM_011516114.1:c.1118-1_1119del
XM_005250297.4:c.1637-1_1638del
XM_011516114.2:c.1118-1_1119del
XM_017012091.1:c.1136-1_1137del
XM_017012092.1:c.1067-1_1068del
XM_017012093.2:c.965-1_966del
XR_001744658.2:n.1597-1_1598del
XR_001744659.2:n.1710-1_1711del
XR_001744660.2:n.1642-1_1643del
XR_001744661.2:n.1557-1_1558del
XR_927461.3:n.1795-1_1796del
NM_000181.4:c.1790-1_1791del
NM_001284290.2:c.1352-1_1353del
NM_001293104.2:c.1220-1_1221del
NM_001293105.2:c.1133-1_1134del
NR_120531.2:n.1735-1_1736del