Canonical Allele Identifier: CA1713854595
Gene: GUSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65960960_65960961delinsAT , CM000669.2:g.65960960_65960961delinsAT GRCh38
NC_000007.13:g.65425947_65425948delinsAT , CM000669.1:g.65425947_65425948delinsAT GRCh37
NC_000007.12:g.65063382_65063383delinsAT NCBI36
NG_016197.1:g.26354_26355delinsAT
NG_051954.1:g.92862_92863delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.1892_1893delinsAT MANE Select ENSP00000302728.4:p.Asn631=
ENST00000304895.8:c.1892_1893delinsAT ENSP00000302728.4:p.Asn631=
ENST00000421103.5:c.1454_1455delinsAT ENSP00000391390.1:p.Asn485=
ENST00000430730.5:c.*1159_*1160delinsAT ENSP00000411859.1:n.*1159_*1160delinsAT
ENST00000447929.5:c.*1272_*1273delinsAT ENSP00000411262.1:n.*1272_*1273delinsAT
ENST00000466883.5:n.2282_2283delinsAT
NM_000181.3:c.1892_1893delinsAT NP_000172.2:p.Asn631=
NM_001284290.1:c.1454_1455delinsAT NP_001271219.1:p.Asn485=
NM_001293104.1:c.1322_1323delinsAT NP_001280033.1:p.Asn441=
NM_001293105.1:c.1235_1236delinsAT NP_001280034.1:p.Asn412=
NR_120531.1:n.1938_1939delinsAT
XM_005250297.3:c.1739_1740delinsAT XP_005250354.1:p.Asn580=
XM_011516113.1:c.1391_1392delinsAT XP_011514415.1:p.Asn464=
XM_011516114.1:c.1220_1221delinsAT XP_011514416.1:p.Asn407=
XM_005250297.4:c.1739_1740delinsAT XP_005250354.1:p.Asn580=
XM_011516114.2:c.1220_1221delinsAT XP_011514416.1:p.Asn407=
XM_017012091.1:c.1238_1239delinsAT XP_016867580.1:p.Asn413=
XM_017012092.1:c.1169_1170delinsAT XP_016867581.1:p.Asn390=
XM_017012093.2:c.1067_1068delinsAT XP_016867582.1:p.Asn356=
XR_001744658.2:n.1699_1700delinsAT
XR_001744659.2:n.1812_1813delinsAT
XR_001744660.2:n.1744_1745delinsAT
XR_001744661.2:n.1659_1660delinsAT
XR_927461.3:n.1897_1898delinsAT
NM_000181.4:c.1892_1893delinsAT MANE Select NP_000172.2:p.Asn631=
NM_001284290.2:c.1454_1455delinsAT NP_001271219.1:p.Asn485=
NM_001293104.2:c.1322_1323delinsAT NP_001280033.1:p.Asn441=
NM_001293105.2:c.1235_1236delinsAT NP_001280034.1:p.Asn412=
NR_120531.2:n.1837_1838delinsAT