Canonical Allele Identifier: CA1713854960

Gene: GUSB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961067_65961072delinsCAAAAA , CM000669.2:g.65961067_65961072delinsCAAAAA	GRCh38
NC_000007.13:g.65426054_65426059delinsCAAAAA , CM000669.1:g.65426054_65426059delinsCAAAAA	GRCh37
NC_000007.12:g.65063489_65063494delinsCAAAAA	NCBI36
NG_016197.1:g.26243_26248delinsTTTTTG
NG_051954.1:g.92969_92974delinsCAAAAA

Transcript Alleles

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