Canonical Allele Identifier: CA2683078482

Gene: GUSB

Linked Data

• gnomAD v4: 7-65967703-CACAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967704_65967707del , CM000669.2:g.65967704_65967707del	GRCh38
NC_000007.13:g.65432691_65432694del , CM000669.1:g.65432691_65432694del	GRCh37
NC_000007.12:g.65070126_65070129del	NCBI36
NG_016197.1:g.19608_19611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1653+24_1653+27del MANE Select	ENSP00000302728.4:n.1653+24_1653+27del
ENST00000304895.8:c.1653+24_1653+27del	ENSP00000302728.4:n.1653+24_1653+27del
ENST00000421103.5:c.1215+24_1215+27del	ENSP00000391390.1:n.1215+24_1215+27del
ENST00000430730.5:c.*920+24_*920+27del	ENSP00000411859.1:n.*920+24_*920+27del
ENST00000447929.5:c.*1033+24_*1033+27del	ENSP00000411262.1:n.*1033+24_*1033+27del
ENST00000461622.1:n.178+24_178+27del
ENST00000462371.1:n.691+24_691+27del
ENST00000466883.5:n.2043+24_2043+27del
NM_000181.3:c.1653+24_1653+27del	NP_000172.2:n.1653+24_1653+27del
NM_001284290.1:c.1215+24_1215+27del	NP_001271219.1:n.1215+24_1215+27del
NM_001293104.1:c.1083+24_1083+27del	NP_001280033.1:n.1083+24_1083+27del
NM_001293105.1:c.996+24_996+27del	NP_001280034.1:n.996+24_996+27del
NR_120531.1:n.1699+24_1699+27del
XM_005250297.3:c.1500+24_1500+27del	XP_005250354.1:n.1500+24_1500+27del
XM_011516113.1:c.1152+24_1152+27del	XP_011514415.1:n.1152+24_1152+27del
XM_011516114.1:c.981+24_981+27del	XP_011514416.1:n.981+24_981+27del
XR_927461.1:n.1739+24_1739+27del
XM_005250297.4:c.1500+24_1500+27del	XP_005250354.1:n.1500+24_1500+27del
XM_011516114.2:c.981+24_981+27del	XP_011514416.1:n.981+24_981+27del
XM_017012091.1:c.999+24_999+27del	XP_016867580.1:n.999+24_999+27del
XM_017012092.1:c.930+24_930+27del	XP_016867581.1:n.930+24_930+27del
XM_017012093.2:c.828+24_828+27del	XP_016867582.1:n.828+24_828+27del
XR_001744658.2:n.1460+24_1460+27del
XR_001744659.2:n.1573+24_1573+27del
XR_001744660.2:n.1505+24_1505+27del
XR_001744661.2:n.1420+24_1420+27del
XR_927461.3:n.1658+24_1658+27del
NM_000181.4:c.1653+24_1653+27del MANE Select	NP_000172.2:n.1653+24_1653+27del
NM_001284290.2:c.1215+24_1215+27del	NP_001271219.1:n.1215+24_1215+27del
NM_001293104.2:c.1083+24_1083+27del	NP_001280033.1:n.1083+24_1083+27del
NM_001293105.2:c.996+24_996+27del	NP_001280034.1:n.996+24_996+27del
NR_120531.2:n.1598+24_1598+27del