Canonical Allele Identifier: CA4276232

Gene: GUSB

Linked Data

• dbSNP Id: rs758492902
• ExAC: 7:65432777 ACTT / A
• gnomAD v2: 7-65432777-ACTT-A
• gnomAD v4: 7-65967790-ACTT-A
• MyVariant Identifiers: chr7:g.65432778_65432780del (hg19) ; chr7:g.65967791_65967793del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967794_65967796del , CM000669.2:g.65967794_65967796del	GRCh38
NC_000007.13:g.65432781_65432783del , CM000669.1:g.65432781_65432783del	GRCh37
NC_000007.12:g.65070216_65070218del	NCBI36
NG_016197.1:g.19522_19524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1591_1593del MANE Select	ENSP00000302728.4:p.Lys531del
ENST00000304895.8:c.1591_1593del	ENSP00000302728.4:p.Lys531del
ENST00000421103.5:c.1153_1155del	ENSP00000391390.1:p.Lys385del
ENST00000430730.5:c.*858_*860del	ENSP00000411859.1:n.*858_*860del
ENST00000447929.5:c.*971_*973del	ENSP00000411262.1:n.*971_*973del
ENST00000461622.1:n.116_118del
ENST00000462371.1:n.629_631del
ENST00000466883.5:n.1981_1983del
NM_000181.3:c.1591_1593del	NP_000172.2:p.Lys531del
NM_001284290.1:c.1153_1155del	NP_001271219.1:p.Lys385del
NM_001293104.1:c.1021_1023del	NP_001280033.1:p.Lys341del
NM_001293105.1:c.934_936del	NP_001280034.1:p.Lys312del
NR_120531.1:n.1637_1639del
XM_005250297.3:c.1438_1440del	XP_005250354.1:p.Lys480del
XM_011516113.1:c.1090_1092del	XP_011514415.1:p.Lys364del
XM_011516114.1:c.919_921del	XP_011514416.1:p.Lys307del
XR_927461.1:n.1677_1679del
XM_005250297.4:c.1438_1440del	XP_005250354.1:p.Lys480del
XM_011516114.2:c.919_921del	XP_011514416.1:p.Lys307del
XM_017012091.1:c.937_939del	XP_016867580.1:p.Lys313del
XM_017012092.1:c.868_870del	XP_016867581.1:p.Lys290del
XM_017012093.2:c.766_768del	XP_016867582.1:p.Lys256del
XR_001744658.2:n.1398_1400del
XR_001744659.2:n.1511_1513del
XR_001744660.2:n.1443_1445del
XR_001744661.2:n.1358_1360del
XR_927461.3:n.1596_1598del
NM_000181.4:c.1591_1593del MANE Select	NP_000172.2:p.Lys531del
NM_001284290.2:c.1153_1155del	NP_001271219.1:p.Lys385del
NM_001293104.2:c.1021_1023del	NP_001280033.1:p.Lys341del
NM_001293105.2:c.934_936del	NP_001280034.1:p.Lys312del
NR_120531.2:n.1536_1538del