Canonical Allele Identifier: CA1397870306
Gene: CASR HGNC NCBI

Linked Data

dbSNP Id: rs2074560929

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122256952_122256953del , CM000665.2:g.122256952_122256953del GRCh38
NC_000003.11:g.121975799_121975800del , CM000665.1:g.121975799_121975800del GRCh37
NC_000003.10:g.123458489_123458490del NCBI36
NG_009058.1:g.78270_78271del
NG_009058.2:g.78285_78286del

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.186-129_186-128del ENSP00000418685.2:n.186-129_186-128del
ENST00000498619.4:c.186-129_186-128del ENSP00000420194.1:n.186-129_186-128del
ENST00000638296.1:n.105-129_105-128del
ENST00000638421.1:c.186-129_186-128del ENSP00000492190.1:n.186-129_186-128del
ENST00000639785.2:c.186-129_186-128del MANE Select ENSP00000491584.2:n.186-129_186-128del
ENST00000490131.5:c.186-129_186-128del ENSP00000418685.1:n.186-129_186-128del
ENST00000490186.1:n.45-129_45-128del
ENST00000498619.2:c.186-129_186-128del ENSP00000420194.1:n.186-129_186-128del
NM_000388.3:c.186-129_186-128del NP_000379.2:n.186-129_186-128del
NM_001178065.1:c.186-129_186-128del NP_001171536.1:n.186-129_186-128del
XM_005247836.2:c.186-129_186-128del XP_005247893.1:n.186-129_186-128del
XM_005247837.2:c.9+2578_9+2579del XP_005247894.1:n.9+2578_9+2579del
XM_006713789.2:c.186-129_186-128del XP_006713852.1:n.186-129_186-128del
XM_011513237.1:c.186-129_186-128del XP_011511539.1:n.186-129_186-128del
XM_011513238.1:c.186-129_186-128del XP_011511540.1:n.186-129_186-128del
XM_006713789.3:c.186-129_186-128del XP_006713852.1:n.186-129_186-128del
XM_017007324.1:c.186-129_186-128del XP_016862813.1:n.186-129_186-128del
XM_017007325.1:c.186-129_186-128del XP_016862814.1:n.186-129_186-128del
NM_000388.4:c.186-129_186-128del MANE Select NP_000379.3:n.186-129_186-128del
NM_001178065.2:c.186-129_186-128del NP_001171536.2:n.186-129_186-128del