Canonical Allele Identifier: CA4276169

Gene: GUSB

Linked Data

• ClinVar Variation Id: 458509
• ClinVar RCV Id: RCV001430924
• dbSNP Id: rs879010457
• ExAC: 7:65426054 C / A
• gnomAD v2: 7-65426054-C-A
• gnomAD v3: 7-65961067-C-A
• gnomAD v4: 7-65961067-C-A
• MyVariant Identifiers: chr7:g.65426054C>A (hg19) ; chr7:g.65426054_65426056delinsAAA (hg19) ; chr7:g.65426054_65426059delinsAAAAAA (hg19) ; chr7:g.65961067C>A (hg38) ; chr7:g.65961067_65961069delinsAAA (hg38) ; chr7:g.65961067_65961072delinsAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961067C>A , CM000669.2:g.65961067C>A	GRCh38
NC_000007.13:g.65426054C>A , CM000669.1:g.65426054C>A	GRCh37
NC_000007.12:g.65063489C>A	NCBI36
NG_016197.1:g.26248G>T
NG_051954.1:g.92969C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.1790-4G>T MANE Select	ENSP00000302728.4:n.1790-4G>T
ENST00000304895.8:c.1790-4G>T	ENSP00000302728.4:n.1790-4G>T
ENST00000421103.5:c.1352-4G>T	ENSP00000391390.1:n.1352-4G>T
ENST00000430730.5:c.*1057-4G>T	ENSP00000411859.1:n.*1057-4G>T
ENST00000447929.5:c.*1170-4G>T	ENSP00000411262.1:n.*1170-4G>T
ENST00000466883.5:n.2180-4G>T
NM_000181.3:c.1790-4G>T	NP_000172.2:n.1790-4G>T
NM_001284290.1:c.1352-4G>T	NP_001271219.1:n.1352-4G>T
NM_001293104.1:c.1220-4G>T	NP_001280033.1:n.1220-4G>T
NM_001293105.1:c.1133-4G>T	NP_001280034.1:n.1133-4G>T
NR_120531.1:n.1836-4G>T
XM_005250297.3:c.1637-4G>T	XP_005250354.1:n.1637-4G>T
XM_011516113.1:c.1289-4G>T	XP_011514415.1:n.1289-4G>T
XM_011516114.1:c.1118-4G>T	XP_011514416.1:n.1118-4G>T
XM_005250297.4:c.1637-4G>T	XP_005250354.1:n.1637-4G>T
XM_011516114.2:c.1118-4G>T	XP_011514416.1:n.1118-4G>T
XM_017012091.1:c.1136-4G>T	XP_016867580.1:n.1136-4G>T
XM_017012092.1:c.1067-4G>T	XP_016867581.1:n.1067-4G>T
XM_017012093.2:c.965-4G>T	XP_016867582.1:n.965-4G>T
XR_001744658.2:n.1597-4G>T
XR_001744659.2:n.1710-4G>T
XR_001744660.2:n.1642-4G>T
XR_001744661.2:n.1557-4G>T
XR_927461.3:n.1795-4G>T
NM_000181.4:c.1790-4G>T MANE Select	NP_000172.2:n.1790-4G>T
NM_001284290.2:c.1352-4G>T	NP_001271219.1:n.1352-4G>T
NM_001293104.2:c.1220-4G>T	NP_001280033.1:n.1220-4G>T
NM_001293105.2:c.1133-4G>T	NP_001280034.1:n.1133-4G>T
NR_120531.2:n.1735-4G>T