Canonical Allele Identifier: CA1397883207
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122276060_122276064delinsGAAAA , CM000665.2:g.122276060_122276064delinsGAAAA GRCh38
NC_000003.11:g.121994907_121994911delinsGAAAA , CM000665.1:g.121994907_121994911delinsGAAAA GRCh37
NC_000003.10:g.123477597_123477601delinsGAAAA NCBI36
NG_009058.1:g.97378_97382delinsGAAAA
NG_009058.2:g.97393_97397delinsGAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1378-6053_1378-6049delinsGAAAA ENSP00000418685.2:n.1378-6053_1378-6049delinsGAAAA
ENST00000498619.4:c.1608+18_1608+22delinsGAAAA ENSP00000420194.1:n.1608+18_1608+22delinsGAAAA
ENST00000638421.1:c.1608+18_1608+22delinsGAAAA ENSP00000492190.1:n.1608+18_1608+22delinsGAAAA
ENST00000639785.2:c.1608+18_1608+22delinsGAAAA MANE Select ENSP00000491584.2:n.1608+18_1608+22delinsGAAAA
ENST00000490131.5:c.1608+18_1608+22delinsGAAAA ENSP00000418685.1:n.1608+18_1608+22delinsGAAAA
ENST00000498619.2:c.1608+18_1608+22delinsGAAAA ENSP00000420194.1:n.1608+18_1608+22delinsGAAAA
NM_000388.3:c.1608+18_1608+22delinsGAAAA NP_000379.2:n.1608+18_1608+22delinsGAAAA
NM_001178065.1:c.1608+18_1608+22delinsGAAAA NP_001171536.1:n.1608+18_1608+22delinsGAAAA
XM_005247836.2:c.1608+18_1608+22delinsGAAAA XP_005247893.1:n.1608+18_1608+22delinsGAAAA
XM_005247837.2:c.1125+18_1125+22delinsGAAAA XP_005247894.1:n.1125+18_1125+22delinsGAAAA
XM_006713789.2:c.1608+18_1608+22delinsGAAAA XP_006713852.1:n.1608+18_1608+22delinsGAAAA
XM_011513237.1:c.1608+18_1608+22delinsGAAAA XP_011511539.1:n.1608+18_1608+22delinsGAAAA
XM_011513238.1:c.1608+18_1608+22delinsGAAAA XP_011511540.1:n.1608+18_1608+22delinsGAAAA
XM_011513239.1:c.1020+18_1020+22delinsGAAAA XP_011511541.1:n.1020+18_1020+22delinsGAAAA
XM_006713789.3:c.1608+18_1608+22delinsGAAAA XP_006713852.1:n.1608+18_1608+22delinsGAAAA
XM_017007324.1:c.1608+18_1608+22delinsGAAAA XP_016862813.1:n.1608+18_1608+22delinsGAAAA
XM_017007325.1:c.1608+18_1608+22delinsGAAAA XP_016862814.1:n.1608+18_1608+22delinsGAAAA
NM_000388.4:c.1608+18_1608+22delinsGAAAA MANE Select NP_000379.3:n.1608+18_1608+22delinsGAAAA
NM_001178065.2:c.1608+18_1608+22delinsGAAAA NP_001171536.2:n.1608+18_1608+22delinsGAAAA