Canonical Allele Identifier: CA2569688

Gene: CASR

Linked Data

• dbSNP Id: rs750903679
• ExAC: 3:121994896 G / GAC
• MyVariant Identifiers: chr3:g.121994896_121994897insAC (hg19) ; chr3:g.122276049_122276050insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122276049_122276050insAC , CM000665.2:g.122276049_122276050insAC	GRCh38
NC_000003.11:g.121994896_121994897insAC , CM000665.1:g.121994896_121994897insAC	GRCh37
NC_000003.10:g.123477586_123477587insAC	NCBI36
NG_009058.1:g.97367_97368insAC
NG_009058.2:g.97382_97383insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1378-6064_1378-6063insAC	ENSP00000418685.2:n.1378-6064_1378-6063insAC
ENST00000498619.4:c.1608+7_1608+8insAC	ENSP00000420194.1:n.1608+7_1608+8insAC
ENST00000638421.1:c.1608+7_1608+8insAC	ENSP00000492190.1:n.1608+7_1608+8insAC
ENST00000639785.2:c.1608+7_1608+8insAC MANE Select	ENSP00000491584.2:n.1608+7_1608+8insAC
ENST00000490131.5:c.1608+7_1608+8insAC	ENSP00000418685.1:n.1608+7_1608+8insAC
ENST00000498619.2:c.1608+7_1608+8insAC	ENSP00000420194.1:n.1608+7_1608+8insAC
NM_000388.3:c.1608+7_1608+8insAC	NP_000379.2:n.1608+7_1608+8insAC
NM_001178065.1:c.1608+7_1608+8insAC	NP_001171536.1:n.1608+7_1608+8insAC
XM_005247836.2:c.1608+7_1608+8insAC	XP_005247893.1:n.1608+7_1608+8insAC
XM_005247837.2:c.1125+7_1125+8insAC	XP_005247894.1:n.1125+7_1125+8insAC
XM_006713789.2:c.1608+7_1608+8insAC	XP_006713852.1:n.1608+7_1608+8insAC
XM_011513237.1:c.1608+7_1608+8insAC	XP_011511539.1:n.1608+7_1608+8insAC
XM_011513238.1:c.1608+7_1608+8insAC	XP_011511540.1:n.1608+7_1608+8insAC
XM_011513239.1:c.1020+7_1020+8insAC	XP_011511541.1:n.1020+7_1020+8insAC
XM_006713789.3:c.1608+7_1608+8insAC	XP_006713852.1:n.1608+7_1608+8insAC
XM_017007324.1:c.1608+7_1608+8insAC	XP_016862813.1:n.1608+7_1608+8insAC
XM_017007325.1:c.1608+7_1608+8insAC	XP_016862814.1:n.1608+7_1608+8insAC
NM_000388.4:c.1608+7_1608+8insAC MANE Select	NP_000379.3:n.1608+7_1608+8insAC
NM_001178065.2:c.1608+7_1608+8insAC	NP_001171536.2:n.1608+7_1608+8insAC