Canonical Allele Identifier: CA2569691

Gene: CASR

Linked Data

• dbSNP Id: rs780400116
• ExAC: 3:121994904 TCA / T
• MyVariant Identifiers: chr3:g.121994905_121994906del (hg19) ; chr3:g.122276058_122276059del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122276058_122276059del , CM000665.2:g.122276058_122276059del	GRCh38
NC_000003.11:g.121994905_121994906del , CM000665.1:g.121994905_121994906del	GRCh37
NC_000003.10:g.123477595_123477596del	NCBI36
NG_009058.1:g.97376_97377del
NG_009058.2:g.97391_97392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1378-6055_1378-6054del	ENSP00000418685.2:n.1378-6055_1378-6054del
ENST00000498619.4:c.1608+16_1608+17del	ENSP00000420194.1:n.1608+16_1608+17del
ENST00000638421.1:c.1608+16_1608+17del	ENSP00000492190.1:n.1608+16_1608+17del
ENST00000639785.2:c.1608+16_1608+17del MANE Select	ENSP00000491584.2:n.1608+16_1608+17del
ENST00000490131.5:c.1608+16_1608+17del	ENSP00000418685.1:n.1608+16_1608+17del
ENST00000498619.2:c.1608+16_1608+17del	ENSP00000420194.1:n.1608+16_1608+17del
NM_000388.3:c.1608+16_1608+17del	NP_000379.2:n.1608+16_1608+17del
NM_001178065.1:c.1608+16_1608+17del	NP_001171536.1:n.1608+16_1608+17del
XM_005247836.2:c.1608+16_1608+17del	XP_005247893.1:n.1608+16_1608+17del
XM_005247837.2:c.1125+16_1125+17del	XP_005247894.1:n.1125+16_1125+17del
XM_006713789.2:c.1608+16_1608+17del	XP_006713852.1:n.1608+16_1608+17del
XM_011513237.1:c.1608+16_1608+17del	XP_011511539.1:n.1608+16_1608+17del
XM_011513238.1:c.1608+16_1608+17del	XP_011511540.1:n.1608+16_1608+17del
XM_011513239.1:c.1020+16_1020+17del	XP_011511541.1:n.1020+16_1020+17del
XM_006713789.3:c.1608+16_1608+17del	XP_006713852.1:n.1608+16_1608+17del
XM_017007324.1:c.1608+16_1608+17del	XP_016862813.1:n.1608+16_1608+17del
XM_017007325.1:c.1608+16_1608+17del	XP_016862814.1:n.1608+16_1608+17del
NM_000388.4:c.1608+16_1608+17del MANE Select	NP_000379.3:n.1608+16_1608+17del
NM_001178065.2:c.1608+16_1608+17del	NP_001171536.2:n.1608+16_1608+17del