Canonical Allele Identifier: CA575259140

Gene: GUSB

Linked Data

• gnomAD v2: 7-65426051-C-CAA
• gnomAD v4: 7-65961064-C-CAA
• MyVariant Identifiers: chr7:g.65426052delinsAAT (hg19) ; chr7:g.65961065delinsAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961064_65961065insAA , CM000669.2:g.65961064_65961065insAA	GRCh38
NC_000007.13:g.65426051_65426052insAA , CM000669.1:g.65426051_65426052insAA	GRCh37
NC_000007.12:g.65063486_65063487insAA	NCBI36
NG_016197.1:g.26250_26251insTT
NG_051954.1:g.92966_92967insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790-2_1790-1insTT MANE Select	ENSP00000302728.4:n.1790-2_1790-1insTT
ENST00000304895.8:c.1790-2_1790-1insTT	ENSP00000302728.4:n.1790-2_1790-1insTT
ENST00000421103.5:c.1352-2_1352-1insTT	ENSP00000391390.1:n.1352-2_1352-1insTT
ENST00000430730.5:c.*1057-2_*1057-1insTT	ENSP00000411859.1:n.*1057-2_*1057-1insTT
ENST00000447929.5:c.*1170-2_*1170-1insTT	ENSP00000411262.1:n.*1170-2_*1170-1insTT
ENST00000466883.5:n.2180-2_2180-1insTT
NM_000181.3:c.1790-2_1790-1insTT	NP_000172.2:n.1790-2_1790-1insTT
NM_001284290.1:c.1352-2_1352-1insTT	NP_001271219.1:n.1352-2_1352-1insTT
NM_001293104.1:c.1220-2_1220-1insTT	NP_001280033.1:n.1220-2_1220-1insTT
NM_001293105.1:c.1133-2_1133-1insTT	NP_001280034.1:n.1133-2_1133-1insTT
NR_120531.1:n.1836-2_1836-1insTT
XM_005250297.3:c.1637-2_1637-1insTT	XP_005250354.1:n.1637-2_1637-1insTT
XM_011516113.1:c.1289-2_1289-1insTT	XP_011514415.1:n.1289-2_1289-1insTT
XM_011516114.1:c.1118-2_1118-1insTT	XP_011514416.1:n.1118-2_1118-1insTT
XM_005250297.4:c.1637-2_1637-1insTT	XP_005250354.1:n.1637-2_1637-1insTT
XM_011516114.2:c.1118-2_1118-1insTT	XP_011514416.1:n.1118-2_1118-1insTT
XM_017012091.1:c.1136-2_1136-1insTT	XP_016867580.1:n.1136-2_1136-1insTT
XM_017012092.1:c.1067-2_1067-1insTT	XP_016867581.1:n.1067-2_1067-1insTT
XM_017012093.2:c.965-2_965-1insTT	XP_016867582.1:n.965-2_965-1insTT
XR_001744658.2:n.1597-2_1597-1insTT
XR_001744659.2:n.1710-2_1710-1insTT
XR_001744660.2:n.1642-2_1642-1insTT
XR_001744661.2:n.1557-2_1557-1insTT
XR_927461.3:n.1795-2_1795-1insTT
NM_000181.4:c.1790-2_1790-1insTT MANE Select	NP_000172.2:n.1790-2_1790-1insTT
NM_001284290.2:c.1352-2_1352-1insTT	NP_001271219.1:n.1352-2_1352-1insTT
NM_001293104.2:c.1220-2_1220-1insTT	NP_001280033.1:n.1220-2_1220-1insTT
NM_001293105.2:c.1133-2_1133-1insTT	NP_001280034.1:n.1133-2_1133-1insTT
NR_120531.2:n.1735-2_1735-1insTT