Canonical Allele Identifier: CA575259134

Gene: GUSB

Linked Data

• gnomAD v2: 7-65426047-GGTGCT-G
• gnomAD v4: 7-65961060-GGTGCT-G
• MyVariant Identifiers: chr7:g.65426048_65426052del (hg19) ; chr7:g.65961061_65961065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961061_65961065del , CM000669.2:g.65961061_65961065del	GRCh38
NC_000007.13:g.65426048_65426052del , CM000669.1:g.65426048_65426052del	GRCh37
NC_000007.12:g.65063483_65063487del	NCBI36
NG_016197.1:g.26250_26254del
NG_051954.1:g.92963_92967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790-2_1792del
ENST00000304895.8:c.1790-2_1792del
ENST00000421103.5:c.1352-2_1354del
ENST00000430730.5:c.*1057-2_*1059del
ENST00000447929.5:c.*1170-2_*1172del
ENST00000466883.5:n.2180-2_2182del
NM_000181.3:c.1790-2_1792del
NM_001284290.1:c.1352-2_1354del
NM_001293104.1:c.1220-2_1222del
NM_001293105.1:c.1133-2_1135del
NR_120531.1:n.1836-2_1838del
XM_005250297.3:c.1637-2_1639del
XM_011516113.1:c.1289-2_1291del
XM_011516114.1:c.1118-2_1120del
XM_005250297.4:c.1637-2_1639del
XM_011516114.2:c.1118-2_1120del
XM_017012091.1:c.1136-2_1138del
XM_017012092.1:c.1067-2_1069del
XM_017012093.2:c.965-2_967del
XR_001744658.2:n.1597-2_1599del
XR_001744659.2:n.1710-2_1712del
XR_001744660.2:n.1642-2_1644del
XR_001744661.2:n.1557-2_1559del
XR_927461.3:n.1795-2_1797del
NM_000181.4:c.1790-2_1792del
NM_001284290.2:c.1352-2_1354del
NM_001293104.2:c.1220-2_1222del
NM_001293105.2:c.1133-2_1135del
NR_120531.2:n.1735-2_1737del