Canonical Allele Identifier: CA1397883237
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122276142_122276144delinsTAA , CM000665.2:g.122276142_122276144delinsTAA GRCh38
NC_000003.11:g.121994989_121994991delinsTAA , CM000665.1:g.121994989_121994991delinsTAA GRCh37
NC_000003.10:g.123477679_123477681delinsTAA NCBI36
NG_009058.1:g.97460_97462delinsTAA
NG_009058.2:g.97475_97477delinsTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1378-5971_1378-5969delinsTAA ENSP00000418685.2:n.1378-5971_1378-5969delinsTAA
ENST00000498619.4:c.1608+100_1608+102delinsTAA ENSP00000420194.1:n.1608+100_1608+102delinsTAA
ENST00000638421.1:c.1608+100_1608+102delinsTAA ENSP00000492190.1:n.1608+100_1608+102delinsTAA
ENST00000639785.2:c.1608+100_1608+102delinsTAA MANE Select ENSP00000491584.2:n.1608+100_1608+102delinsTAA
ENST00000490131.5:c.1608+100_1608+102delinsTAA ENSP00000418685.1:n.1608+100_1608+102delinsTAA
ENST00000498619.2:c.1608+100_1608+102delinsTAA ENSP00000420194.1:n.1608+100_1608+102delinsTAA
NM_000388.3:c.1608+100_1608+102delinsTAA NP_000379.2:n.1608+100_1608+102delinsTAA
NM_001178065.1:c.1608+100_1608+102delinsTAA NP_001171536.1:n.1608+100_1608+102delinsTAA
XM_005247836.2:c.1608+100_1608+102delinsTAA XP_005247893.1:n.1608+100_1608+102delinsTAA
XM_005247837.2:c.1125+100_1125+102delinsTAA XP_005247894.1:n.1125+100_1125+102delinsTAA
XM_006713789.2:c.1608+100_1608+102delinsTAA XP_006713852.1:n.1608+100_1608+102delinsTAA
XM_011513237.1:c.1608+100_1608+102delinsTAA XP_011511539.1:n.1608+100_1608+102delinsTAA
XM_011513238.1:c.1608+100_1608+102delinsTAA XP_011511540.1:n.1608+100_1608+102delinsTAA
XM_011513239.1:c.1020+100_1020+102delinsTAA XP_011511541.1:n.1020+100_1020+102delinsTAA
XM_006713789.3:c.1608+100_1608+102delinsTAA XP_006713852.1:n.1608+100_1608+102delinsTAA
XM_017007324.1:c.1608+100_1608+102delinsTAA XP_016862813.1:n.1608+100_1608+102delinsTAA
XM_017007325.1:c.1608+100_1608+102delinsTAA XP_016862814.1:n.1608+100_1608+102delinsTAA
NM_000388.4:c.1608+100_1608+102delinsTAA MANE Select NP_000379.3:n.1608+100_1608+102delinsTAA
NM_001178065.2:c.1608+100_1608+102delinsTAA NP_001171536.2:n.1608+100_1608+102delinsTAA