Canonical Allele Identifier: CA2740094574

Gene: CASR

Linked Data

• ClinVar Variation Id: 2939157
• ClinVar RCV Id: RCV003791883

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284068_122284076del , CM000665.2:g.122284068_122284076del	GRCh38
NC_000003.11:g.122002915_122002923del , CM000665.1:g.122002915_122002923del	GRCh37
NC_000003.10:g.123485605_123485613del	NCBI36
NG_009058.1:g.105386_105394del
NG_009058.2:g.105401_105409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1883_1891del	ENSP00000418685.2:p.Val628_Glu630del
ENST00000498619.4:c.2144_2152del	ENSP00000420194.1:p.Val715_Glu717del
ENST00000638421.1:c.2114_2122del	ENSP00000492190.1:p.Val705_Glu707del
ENST00000639785.2:c.2114_2122del MANE Select	ENSP00000491584.2:p.Val705_Glu707del
ENST00000490131.5:c.2114_2122del	ENSP00000418685.1:p.Val705_Glu707del
ENST00000498619.2:c.2144_2152del	ENSP00000420194.1:p.Val715_Glu717del
NM_000388.3:c.2114_2122del	NP_000379.2:p.Val705_Glu707del
NM_001178065.1:c.2144_2152del	NP_001171536.1:p.Val715_Glu717del
XM_005247836.2:c.2114_2122del	XP_005247893.1:p.Val705_Glu707del
XM_005247837.2:c.1631_1639del	XP_005247894.1:p.Val544_Glu546del
XM_006713789.2:c.2114_2122del	XP_006713852.1:p.Val705_Glu707del
XM_011513237.1:c.2114_2122del	XP_011511539.1:p.Val705_Glu707del
XM_011513238.1:c.2114_2122del	XP_011511540.1:p.Val705_Glu707del
XM_011513239.1:c.1526_1534del	XP_011511541.1:p.Val509_Glu511del
XM_006713789.3:c.2114_2122del	XP_006713852.1:p.Val705_Glu707del
XM_017007324.1:c.2114_2122del	XP_016862813.1:p.Val705_Glu707del
XM_017007325.1:c.2114_2122del	XP_016862814.1:p.Val705_Glu707del
NM_000388.4:c.2114_2122del MANE Select	NP_000379.3:p.Val705_Glu707del
NM_001178065.2:c.2144_2152del	NP_001171536.2:p.Val715_Glu717del