Canonical Allele Identifier: CA2580068666

Gene: CASR

Linked Data

• ClinVar Variation Id: 1697472
• ClinVar RCV Id: RCV002268756
• dbSNP Id: rs2107650917

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284607_122284636del , CM000665.2:g.122284607_122284636del	GRCh38
NC_000003.11:g.122003454_122003483del , CM000665.1:g.122003454_122003483del	GRCh37
NC_000003.10:g.123486144_123486173del	NCBI36
NG_009058.1:g.105925_105954del
NG_009058.2:g.105940_105969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2422_2451del	ENSP00000418685.2:p.Ala808_Val817del
ENST00000498619.4:c.2683_2712del	ENSP00000420194.1:p.Ala895_Val904del
ENST00000638421.1:c.2653_2682del	ENSP00000492190.1:p.Ala885_Val894del
ENST00000639785.2:c.2653_2682del MANE Select	ENSP00000491584.2:p.Ala885_Val894del
ENST00000490131.5:c.2653_2682del	ENSP00000418685.1:p.Ala885_Val894del
ENST00000498619.2:c.2683_2712del	ENSP00000420194.1:p.Ala895_Val904del
NM_000388.3:c.2653_2682del	NP_000379.2:p.Ala885_Val894del
NM_001178065.1:c.2683_2712del	NP_001171536.1:p.Ala895_Val904del
XM_005247836.2:c.2653_2682del	XP_005247893.1:p.Ala885_Val894del
XM_005247837.2:c.2170_2199del	XP_005247894.1:p.Ala724_Val733del
XM_006713789.2:c.2653_2682del	XP_006713852.1:p.Ala885_Val894del
XM_011513237.1:c.2653_2682del	XP_011511539.1:p.Ala885_Val894del
XM_011513238.1:c.2653_2682del	XP_011511540.1:p.Ala885_Val894del
XM_011513239.1:c.2065_2094del	XP_011511541.1:p.Ala689_Val698del
XM_006713789.3:c.2653_2682del	XP_006713852.1:p.Ala885_Val894del
XM_017007324.1:c.2653_2682del	XP_016862813.1:p.Ala885_Val894del
XM_017007325.1:c.2653_2682del	XP_016862814.1:p.Ala885_Val894del
NM_000388.4:c.2653_2682del MANE Select	NP_000379.3:p.Ala885_Val894del
NM_001178065.2:c.2683_2712del	NP_001171536.2:p.Ala895_Val904del