Canonical Allele Identifier: CA1332796031
Gene: COL4A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227164758_227164770delinsTGCTCCTGCTGCC , CM000664.2:g.227164758_227164770delinsTGCTCCTGCTGCC GRCh38
NC_000002.11:g.228029474_228029486delinsTGCTCCTGCTGCC , CM000664.1:g.228029474_228029486delinsTGCTCCTGCTGCC GRCh37
NC_000002.10:g.227737718_227737730delinsTGCTCCTGCTGCC NCBI36
NG_011591.1:g.5194_5206delinsTGCTCCTGCTGCC , LRG_230:g.5194_5206delinsTGCTCCTGCTGCC
NG_011592.1:g.4790_4802delinsGGCAGCAGGAGCA , LRG_231:g.4790_4802delinsGGCAGCAGGAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000396578.8:c.32_44delinsTGCTCCTGCTGCC MANE Select ENSP00000379823.3:p.Val11=
ENST00000396578.7:c.32_44delinsTGCTCCTGCTGCC ENSP00000379823.3:p.Val11=
NM_000091.4:c.32_44delinsTGCTCCTGCTGCC , LRG_230t1:c.32_44delinsTGCTCCTGCTGCC NP_000082.2:p.Val11=
XM_005246276.2:c.32_44delinsTGCTCCTGCTGCC XP_005246333.1:p.Val11=
XM_005246277.2:c.32_44delinsTGCTCCTGCTGCC XP_005246334.1:p.Val11=
XM_005246280.2:c.32_44delinsTGCTCCTGCTGCC XP_005246337.1:p.Val11=
XM_006712245.2:c.32_44delinsTGCTCCTGCTGCC XP_006712308.1:p.Val11=
XM_011510555.1:c.32_44delinsTGCTCCTGCTGCC XP_011508857.1:p.Val11=
XR_241280.2:n.170_182delinsTGCTCCTGCTGCC
XM_005246277.3:c.32_44delinsTGCTCCTGCTGCC XP_005246334.1:p.Val11=
XM_005246280.3:c.32_44delinsTGCTCCTGCTGCC XP_005246337.1:p.Val11=
XM_006712245.3:c.32_44delinsTGCTCCTGCTGCC XP_006712308.1:p.Val11=
XM_017003295.1:c.32_44delinsTGCTCCTGCTGCC XP_016858784.1:p.Val11=
XR_001738601.1:n.170_182delinsTGCTCCTGCTGCC
XR_241280.3:n.170_182delinsTGCTCCTGCTGCC
NM_000091.5:c.32_44delinsTGCTCCTGCTGCC MANE Select NP_000082.2:p.Val11=