Canonical Allele Identifier: CA2740094561

Gene: CASR

Linked Data

• ClinVar Variation Id: 2922297
• ClinVar RCV Id: RCV003785511

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257273_122257275del , CM000665.2:g.122257273_122257275del	GRCh38
NC_000003.11:g.121976120_121976122del , CM000665.1:g.121976120_121976122del	GRCh37
NC_000003.10:g.123458810_123458812del	NCBI36
NG_009058.1:g.78591_78593del
NG_009058.2:g.78606_78608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.378_380del	ENSP00000418685.2:p.Asp126del
ENST00000498619.4:c.378_380del	ENSP00000420194.1:p.Asp126del
ENST00000638296.1:n.297_299del
ENST00000638421.1:c.378_380del	ENSP00000492190.1:p.Asp126del
ENST00000639785.2:c.378_380del MANE Select	ENSP00000491584.2:p.Asp126del
ENST00000490131.5:c.378_380del	ENSP00000418685.1:p.Asp126del
ENST00000490186.1:n.237_239del
ENST00000498619.2:c.378_380del	ENSP00000420194.1:p.Asp126del
NM_000388.3:c.378_380del	NP_000379.2:p.Asp126del
NM_001178065.1:c.378_380del	NP_001171536.1:p.Asp126del
XM_005247836.2:c.378_380del	XP_005247893.1:p.Asp126del
XM_005247837.2:c.9+2899_9+2901del	XP_005247894.1:n.9+2899_9+2901del
XM_006713789.2:c.378_380del	XP_006713852.1:p.Asp126del
XM_011513237.1:c.378_380del	XP_011511539.1:p.Asp126del
XM_011513238.1:c.378_380del	XP_011511540.1:p.Asp126del
XM_006713789.3:c.378_380del	XP_006713852.1:p.Asp126del
XM_017007324.1:c.378_380del	XP_016862813.1:p.Asp126del
XM_017007325.1:c.378_380del	XP_016862814.1:p.Asp126del
NM_000388.4:c.378_380del MANE Select	NP_000379.3:p.Asp126del
NM_001178065.2:c.378_380del	NP_001171536.2:p.Asp126del