Canonical Allele Identifier: CA2580068631

Gene: CASR

Linked Data

• ClinVar Variation Id: 1804677
• ClinVar RCV Id: RCV002469974

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261615_122261616delinsCT , CM000665.2:g.122261615_122261616delinsCT	GRCh38
NC_000003.11:g.121980462_121980463delinsCT , CM000665.1:g.121980462_121980463delinsCT	GRCh37
NC_000003.10:g.123463152_123463153delinsCT	NCBI36
NG_009058.1:g.82933_82934delinsCT
NG_009058.2:g.82948_82949delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.580_581delinsCT	ENSP00000418685.2:p.Ala194Leu
ENST00000498619.4:c.580_581delinsCT	ENSP00000420194.1:p.Ala194Leu
ENST00000638421.1:c.580_581delinsCT	ENSP00000492190.1:p.Ala194Leu
ENST00000639785.2:c.580_581delinsCT MANE Select	ENSP00000491584.2:p.Ala194Leu
ENST00000490131.5:c.580_581delinsCT	ENSP00000418685.1:p.Ala194Leu
ENST00000498619.2:c.580_581delinsCT	ENSP00000420194.1:p.Ala194Leu
NM_000388.3:c.580_581delinsCT	NP_000379.2:p.Ala194Leu
NM_001178065.1:c.580_581delinsCT	NP_001171536.1:p.Ala194Leu
XM_005247836.2:c.580_581delinsCT	XP_005247893.1:p.Ala194Leu
XM_005247837.2:c.97_98delinsCT	XP_005247894.1:p.Ala33Leu
XM_006713789.2:c.580_581delinsCT	XP_006713852.1:p.Ala194Leu
XM_011513237.1:c.580_581delinsCT	XP_011511539.1:p.Ala194Leu
XM_011513238.1:c.580_581delinsCT	XP_011511540.1:p.Ala194Leu
XM_011513239.1:c.-9_-8delinsCT	XP_011511541.1:n.-9_-8delinsCT
XM_006713789.3:c.580_581delinsCT	XP_006713852.1:p.Ala194Leu
XM_017007324.1:c.580_581delinsCT	XP_016862813.1:p.Ala194Leu
XM_017007325.1:c.580_581delinsCT	XP_016862814.1:p.Ala194Leu
NM_000388.4:c.580_581delinsCT MANE Select	NP_000379.3:p.Ala194Leu
NM_001178065.2:c.580_581delinsCT	NP_001171536.2:p.Ala194Leu