Canonical Allele Identifier: CA1397873058

Gene: CASR

Linked Data

• ClinVar Variation Id: 2414286
• ClinVar RCV Id: RCV003106619
• dbSNP Id: rs2074626300

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261782_122261784del , CM000665.2:g.122261782_122261784del	GRCh38
NC_000003.11:g.121980629_121980631del , CM000665.1:g.121980629_121980631del	GRCh37
NC_000003.10:g.123463319_123463321del	NCBI36
NG_009058.1:g.83100_83102del
NG_009058.2:g.83115_83117del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.747_749del	ENSP00000418685.2:p.Glu250del
ENST00000498619.4:c.747_749del	ENSP00000420194.1:p.Glu250del
ENST00000638421.1:c.747_749del	ENSP00000492190.1:p.Glu250del
ENST00000639785.2:c.747_749del MANE Select	ENSP00000491584.2:p.Glu250del
ENST00000490131.5:c.747_749del	ENSP00000418685.1:p.Glu250del
ENST00000498619.2:c.747_749del	ENSP00000420194.1:p.Glu250del
NM_000388.3:c.747_749del	NP_000379.2:p.Glu250del
NM_001178065.1:c.747_749del	NP_001171536.1:p.Glu250del
XM_005247836.2:c.747_749del	XP_005247893.1:p.Glu250del
XM_005247837.2:c.264_266del	XP_005247894.1:p.Glu89del
XM_006713789.2:c.747_749del	XP_006713852.1:p.Glu250del
XM_011513237.1:c.747_749del	XP_011511539.1:p.Glu250del
XM_011513238.1:c.747_749del	XP_011511540.1:p.Glu250del
XM_011513239.1:c.159_161del	XP_011511541.1:p.Glu54del
XM_006713789.3:c.747_749del	XP_006713852.1:p.Glu250del
XM_017007324.1:c.747_749del	XP_016862813.1:p.Glu250del
XM_017007325.1:c.747_749del	XP_016862814.1:p.Glu250del
NM_000388.4:c.747_749del MANE Select	NP_000379.3:p.Glu250del
NM_001178065.2:c.747_749del	NP_001171536.2:p.Glu250del