Canonical Allele Identifier: CA891842857

Gene: CASR

Linked Data

• ClinVar Variation Id: 583082
• ClinVar RCV Id: RCV002233710
• dbSNP Id: rs1559956683
• MyVariant Identifiers: chr3:g.121976138_121976152del (hg19) ; chr3:g.122257291_122257305del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257291_122257305del , CM000665.2:g.122257291_122257305del	GRCh38
NC_000003.11:g.121976138_121976152del , CM000665.1:g.121976138_121976152del	GRCh37
NC_000003.10:g.123458828_123458842del	NCBI36
NG_009058.1:g.78609_78623del
NG_009058.2:g.78624_78638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.396_410del	ENSP00000418685.2:p.Glu133_Ser137del
ENST00000498619.4:c.396_410del	ENSP00000420194.1:p.Glu133_Ser137del
ENST00000638296.1:n.315_329del
ENST00000638421.1:c.396_410del	ENSP00000492190.1:p.Glu133_Ser137del
ENST00000639785.2:c.396_410del MANE Select	ENSP00000491584.2:p.Glu133_Ser137del
ENST00000490131.5:c.396_410del	ENSP00000418685.1:p.Glu133_Ser137del
ENST00000490186.1:n.255_269del
ENST00000498619.2:c.396_410del	ENSP00000420194.1:p.Glu133_Ser137del
NM_000388.3:c.396_410del	NP_000379.2:p.Glu133_Ser137del
NM_001178065.1:c.396_410del	NP_001171536.1:p.Glu133_Ser137del
XM_005247836.2:c.396_410del	XP_005247893.1:p.Glu133_Ser137del
XM_005247837.2:c.9+2917_9+2931del	XP_005247894.1:n.9+2917_9+2931del
XM_006713789.2:c.396_410del	XP_006713852.1:p.Glu133_Ser137del
XM_011513237.1:c.396_410del	XP_011511539.1:p.Glu133_Ser137del
XM_011513238.1:c.396_410del	XP_011511540.1:p.Glu133_Ser137del
XM_006713789.3:c.396_410del	XP_006713852.1:p.Glu133_Ser137del
XM_017007324.1:c.396_410del	XP_016862813.1:p.Glu133_Ser137del
XM_017007325.1:c.396_410del	XP_016862814.1:p.Glu133_Ser137del
NM_000388.4:c.396_410del MANE Select	NP_000379.3:p.Glu133_Ser137del
NM_001178065.2:c.396_410del	NP_001171536.2:p.Glu133_Ser137del