Canonical Allele Identifier: CA2683077847

Gene: GUSB

Linked Data

• gnomAD v4: 7-65961065-T-TAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961066_65961067insAAAAA , CM000669.2:g.65961066_65961067insAAAAA	GRCh38
NC_000007.13:g.65426053_65426054insAAAAA , CM000669.1:g.65426053_65426054insAAAAA	GRCh37
NC_000007.12:g.65063488_65063489insAAAAA	NCBI36
NG_016197.1:g.26249_26250insTTTTT
NG_051954.1:g.92968_92969insAAAAA

Transcript Alleles

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