Canonical Allele Identifier: CA1397856253
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122254375_122254389delinsGTAAGAAGAGGGGCC , CM000665.2:g.122254375_122254389delinsGTAAGAAGAGGGGCC GRCh38
NC_000003.11:g.121973222_121973236delinsGTAAGAAGAGGGGCC , CM000665.1:g.121973222_121973236delinsGTAAGAAGAGGGGCC GRCh37
NC_000003.10:g.123455912_123455926delinsGTAAGAAGAGGGGCC NCBI36
NG_009058.1:g.75693_75707delinsGTAAGAAGAGGGGCC
NG_009058.2:g.75708_75722delinsGTAAGAAGAGGGGCC

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.185+1_185+15delinsGTAAGAAGAGGGGCC ENSP00000418685.2:n.185+1_185+15delinsGTA...
ENST00000498619.4:c.185+1_185+15delinsGTAAGAAGAGGGGCC ENSP00000420194.1:n.185+1_185+15delinsGTA...
ENST00000638296.1:n.104+1_104+15delinsGTAAGAAGAGGGGCC
ENST00000638421.1:c.185+1_185+15delinsGTAAGAAGAGGGGCC ENSP00000492190.1:n.185+1_185+15delinsGTA...
ENST00000639785.2:c.185+1_185+15delinsGTAAGAAGAGGGGCC MANE Select ENSP00000491584.2:n.185+1_185+15delinsGTA...
ENST00000490131.5:c.185+1_185+15delinsGTAAGAAGAGGGGCC ENSP00000418685.1:n.185+1_185+15delinsGTA...
ENST00000490186.1:n.44+1_44+15delinsGTAAGAAGAGGGGCC
ENST00000498619.2:c.185+1_185+15delinsGTAAGAAGAGGGGCC ENSP00000420194.1:n.185+1_185+15delinsGTA...
NM_000388.3:c.185+1_185+15delinsGTAAGAAGAGGGGCC NP_000379.2:n.185+1_185+15delinsGTAAGAAGA...
NM_001178065.1:c.185+1_185+15delinsGTAAGAAGAGGGGCC NP_001171536.1:n.185+1_185+15delinsGTAAGA...
XM_005247836.2:c.185+1_185+15delinsGTAAGAAGAGGGGCC XP_005247893.1:n.185+1_185+15delinsGTAAGA...
XM_005247837.2:c.9+1_9+15delinsGTAAGAAGAGGGGCC XP_005247894.1:n.9+1_9+15delinsGTAAGAAGAG...
XM_006713789.2:c.185+1_185+15delinsGTAAGAAGAGGGGCC XP_006713852.1:n.185+1_185+15delinsGTAAGA...
XM_011513237.1:c.185+1_185+15delinsGTAAGAAGAGGGGCC XP_011511539.1:n.185+1_185+15delinsGTAAGA...
XM_011513238.1:c.185+1_185+15delinsGTAAGAAGAGGGGCC XP_011511540.1:n.185+1_185+15delinsGTAAGA...
XM_006713789.3:c.185+1_185+15delinsGTAAGAAGAGGGGCC XP_006713852.1:n.185+1_185+15delinsGTAAGA...
XM_017007324.1:c.185+1_185+15delinsGTAAGAAGAGGGGCC XP_016862813.1:n.185+1_185+15delinsGTAAGA...
XM_017007325.1:c.185+1_185+15delinsGTAAGAAGAGGGGCC XP_016862814.1:n.185+1_185+15delinsGTAAGA...
NM_000388.4:c.185+1_185+15delinsGTAAGAAGAGGGGCC MANE Select NP_000379.3:n.185+1_185+15delinsGTAAGAAGA...
NM_001178065.2:c.185+1_185+15delinsGTAAGAAGAGGGGCC NP_001171536.2:n.185+1_185+15delinsGTAAGA...