Canonical Allele Identifier: CA1713855171

Gene: GUSB

Linked Data

• dbSNP Id: rs1219469323
• gnomAD v4: 7-65961162-CTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961168_65961171del , CM000669.2:g.65961168_65961171del	GRCh38
NC_000007.13:g.65426155_65426158del , CM000669.1:g.65426155_65426158del	GRCh37
NC_000007.12:g.65063590_65063593del	NCBI36
NG_016197.1:g.26149_26152del
NG_051954.1:g.93070_93073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1790-103_1790-100del MANE Select	ENSP00000302728.4:n.1790-103_1790-100del
ENST00000304895.8:c.1790-103_1790-100del	ENSP00000302728.4:n.1790-103_1790-100del
ENST00000421103.5:c.1352-103_1352-100del	ENSP00000391390.1:n.1352-103_1352-100del
ENST00000430730.5:c.*1057-103_*1057-100del	ENSP00000411859.1:n.*1057-103_*1057-100del
ENST00000447929.5:c.*1170-103_*1170-100del	ENSP00000411262.1:n.*1170-103_*1170-100del
ENST00000466883.5:n.2180-103_2180-100del
NM_000181.3:c.1790-103_1790-100del	NP_000172.2:n.1790-103_1790-100del
NM_001284290.1:c.1352-103_1352-100del	NP_001271219.1:n.1352-103_1352-100del
NM_001293104.1:c.1220-103_1220-100del	NP_001280033.1:n.1220-103_1220-100del
NM_001293105.1:c.1133-103_1133-100del	NP_001280034.1:n.1133-103_1133-100del
NR_120531.1:n.1836-103_1836-100del
XM_005250297.3:c.1637-103_1637-100del	XP_005250354.1:n.1637-103_1637-100del
XM_011516113.1:c.1289-103_1289-100del	XP_011514415.1:n.1289-103_1289-100del
XM_011516114.1:c.1118-103_1118-100del	XP_011514416.1:n.1118-103_1118-100del
XM_005250297.4:c.1637-103_1637-100del	XP_005250354.1:n.1637-103_1637-100del
XM_011516114.2:c.1118-103_1118-100del	XP_011514416.1:n.1118-103_1118-100del
XM_017012091.1:c.1136-103_1136-100del	XP_016867580.1:n.1136-103_1136-100del
XM_017012092.1:c.1067-103_1067-100del	XP_016867581.1:n.1067-103_1067-100del
XM_017012093.2:c.965-103_965-100del	XP_016867582.1:n.965-103_965-100del
XR_001744658.2:n.1597-103_1597-100del
XR_001744659.2:n.1710-103_1710-100del
XR_001744660.2:n.1642-103_1642-100del
XR_001744661.2:n.1557-103_1557-100del
XR_927461.3:n.1795-103_1795-100del
NM_000181.4:c.1790-103_1790-100del MANE Select	NP_000172.2:n.1790-103_1790-100del
NM_001284290.2:c.1352-103_1352-100del	NP_001271219.1:n.1352-103_1352-100del
NM_001293104.2:c.1220-103_1220-100del	NP_001280033.1:n.1220-103_1220-100del
NM_001293105.2:c.1133-103_1133-100del	NP_001280034.1:n.1133-103_1133-100del
NR_120531.2:n.1735-103_1735-100del