Canonical Allele Identifier: CA2706447730
Gene: GC HGNC NCBI

Linked Data

dbSNP Id: rs2149297032

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.71756916_71756917insCTTTGGCCATGCAATCTTCAGAGGCAGACTC , CM000666.2:g.71756916_71756917insCTTTGGCCATGCAATCTTCAGAGGCAGACTC GRCh38
NC_000004.11:g.72622633_72622634insCTTTGGCCATGCAATCTTCAGAGGCAGACTC , CM000666.1:g.72622633_72622634insCTTTGGCCATGCAATCTTCAGAGGCAGACTC GRCh37
NC_000004.10:g.72841497_72841498insCTTTGGCCATGCAATCTTCAGAGGCAGACTC NCBI36
NG_012837.2:g.53604_53605insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG
NG_012837.3:g.53604_53605insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000273951.13:c.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG MANE Select ENSP00000273951.8:n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCC...
ENST00000273951.12:c.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG ENSP00000273951.8:n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCC...
ENST00000503472.5:n.716-3_716-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG
ENST00000504199.5:c.889-3_889-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG ENSP00000421725.1:n.889-3_889-2insGAGTCTGCCTCTGAAGATTGCATGGCC...
ENST00000509740.5:c.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG ENSP00000422664.1:n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCC...
ENST00000513476.5:c.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG ENSP00000426683.1:n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCC...
NM_000583.3:c.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG NP_000574.2:n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG
NM_001204306.1:c.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG NP_001191235.1:n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAA...
NM_001204307.1:c.889-3_889-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG NP_001191236.1:n.889-3_889-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAA...
XM_006714177.2:c.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG XP_006714240.1:n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAA...
XM_006714177.3:c.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG XP_006714240.1:n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAA...
NM_000583.4:c.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG MANE Select NP_000574.2:n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG