Canonical Allele Identifier: CA1713853989

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960697_65960698delinsCT , CM000669.2:g.65960697_65960698delinsCT	GRCh38
NC_000007.13:g.65425684_65425685delinsCT , CM000669.1:g.65425684_65425685delinsCT	GRCh37
NC_000007.12:g.65063119_65063120delinsCT	NCBI36
NG_016197.1:g.26617_26618delinsAG
NG_051954.1:g.92599_92600delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000304895.9:c.*199_*200delinsAG MANE Select	ENSP00000302728.4:n.*199_*200delinsAG
ENST00000304895.8:c.*199_*200delinsAG	ENSP00000302728.4:n.*199_*200delinsAG
ENST00000466883.5:n.2545_2546delinsAG
NM_000181.3:c.*199_*200delinsAG	NP_000172.2:n.*199_*200delinsAG
NM_001284290.1:c.*199_*200delinsAG	NP_001271219.1:n.*199_*200delinsAG
NM_001293104.1:c.*199_*200delinsAG	NP_001280033.1:n.*199_*200delinsAG
NM_001293105.1:c.*199_*200delinsAG	NP_001280034.1:n.*199_*200delinsAG
NR_120531.1:n.2201_2202delinsAG
XM_005250297.3:c.*199_*200delinsAG	XP_005250354.1:n.*199_*200delinsAG
XM_011516113.1:c.*199_*200delinsAG	XP_011514415.1:n.*199_*200delinsAG
XM_011516114.1:c.*199_*200delinsAG	XP_011514416.1:n.*199_*200delinsAG
XM_005250297.4:c.*199_*200delinsAG	XP_005250354.1:n.*199_*200delinsAG
XM_011516114.2:c.*199_*200delinsAG	XP_011514416.1:n.*199_*200delinsAG
XM_017012091.1:c.*199_*200delinsAG	XP_016867580.1:n.*199_*200delinsAG
XM_017012092.1:c.*199_*200delinsAG	XP_016867581.1:n.*199_*200delinsAG
XM_017012093.2:c.*199_*200delinsAG	XP_016867582.1:n.*199_*200delinsAG
XR_001744658.2:n.1962_1963delinsAG
XR_001744659.2:n.2075_2076delinsAG
XR_001744660.2:n.2007_2008delinsAG
XR_001744661.2:n.1922_1923delinsAG
XR_927461.3:n.2160_2161delinsAG
NM_000181.4:c.*199_*200delinsAG MANE Select	NP_000172.2:n.*199_*200delinsAG
NM_001284290.2:c.*199_*200delinsAG	NP_001271219.1:n.*199_*200delinsAG
NM_001293104.2:c.*199_*200delinsAG	NP_001280033.1:n.*199_*200delinsAG
NM_001293105.2:c.*199_*200delinsAG	NP_001280034.1:n.*199_*200delinsAG
NR_120531.2:n.2100_2101delinsAG