Canonical Allele Identifier: CA1397871333

Gene: CASR

Linked Data

• ClinVar Variation Id: 954724
• ClinVar RCV Id: RCV001227236
• dbSNP Id: rs2074927295

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283956_122283958del , CM000665.2:g.122283956_122283958del	GRCh38
NC_000003.11:g.122002803_122002805del , CM000665.1:g.122002803_122002805del	GRCh37
NC_000003.10:g.123485493_123485495del	NCBI36
NG_009058.1:g.105274_105276del
NG_009058.2:g.105289_105291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1771_1773del	ENSP00000418685.2:p.Phe591del
ENST00000498619.4:c.2032_2034del	ENSP00000420194.1:p.Phe678del
ENST00000638421.1:c.2002_2004del	ENSP00000492190.1:p.Phe668del
ENST00000639785.2:c.2002_2004del MANE Select	ENSP00000491584.2:p.Phe668del
ENST00000490131.5:c.2002_2004del	ENSP00000418685.1:p.Phe668del
ENST00000498619.2:c.2032_2034del	ENSP00000420194.1:p.Phe678del
NM_000388.3:c.2002_2004del	NP_000379.2:p.Phe668del
NM_001178065.1:c.2032_2034del	NP_001171536.1:p.Phe678del
XM_005247836.2:c.2002_2004del	XP_005247893.1:p.Phe668del
XM_005247837.2:c.1519_1521del	XP_005247894.1:p.Phe507del
XM_006713789.2:c.2002_2004del	XP_006713852.1:p.Phe668del
XM_011513237.1:c.2002_2004del	XP_011511539.1:p.Phe668del
XM_011513238.1:c.2002_2004del	XP_011511540.1:p.Phe668del
XM_011513239.1:c.1414_1416del	XP_011511541.1:p.Phe472del
XM_006713789.3:c.2002_2004del	XP_006713852.1:p.Phe668del
XM_017007324.1:c.2002_2004del	XP_016862813.1:p.Phe668del
XM_017007325.1:c.2002_2004del	XP_016862814.1:p.Phe668del
NM_000388.4:c.2002_2004del MANE Select	NP_000379.3:p.Phe668del
NM_001178065.2:c.2032_2034del	NP_001171536.2:p.Phe678del