Canonical Allele Identifier: CA915941533

Gene: CASR

Linked Data

• ClinVar Variation Id: 661368
• ClinVar RCV Id: RCV000818767 ; RCV004028969
• dbSNP Id: rs1576878270

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284619_122284634del , CM000665.2:g.122284619_122284634del	GRCh38
NC_000003.11:g.122003466_122003481del , CM000665.1:g.122003466_122003481del	GRCh37
NC_000003.10:g.123486156_123486171del	NCBI36
NG_009058.1:g.105937_105952del
NG_009058.2:g.105952_105967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2434_2449del	ENSP00000418685.2:p.Leu812SerfsTer?
ENST00000498619.4:c.2695_2710del	ENSP00000420194.1:p.Leu899SerfsTer?
ENST00000638421.1:c.2665_2680del	ENSP00000492190.1:p.Leu889SerfsTer?
ENST00000639785.2:c.2665_2680del MANE Select	ENSP00000491584.2:p.Leu889SerfsTer?
ENST00000490131.5:c.2665_2680del	ENSP00000418685.1:p.Leu889SerfsTer?
ENST00000498619.2:c.2695_2710del	ENSP00000420194.1:p.Leu899SerfsTer?
NM_000388.3:c.2665_2680del	NP_000379.2:p.Leu889SerfsTer?
NM_001178065.1:c.2695_2710del	NP_001171536.1:p.Leu899SerfsTer?
XM_005247836.2:c.2665_2680del	XP_005247893.1:p.Leu889SerfsTer?
XM_005247837.2:c.2182_2197del	XP_005247894.1:p.Leu728SerfsTer?
XM_006713789.2:c.2665_2680del	XP_006713852.1:p.Leu889SerfsTer?
XM_011513237.1:c.2665_2680del	XP_011511539.1:p.Leu889SerfsTer?
XM_011513238.1:c.2665_2680del	XP_011511540.1:p.Leu889SerfsTer?
XM_011513239.1:c.2077_2092del	XP_011511541.1:p.Leu693SerfsTer?
XM_006713789.3:c.2665_2680del	XP_006713852.1:p.Leu889SerfsTer?
XM_017007324.1:c.2665_2680del	XP_016862813.1:p.Leu889SerfsTer?
XM_017007325.1:c.2665_2680del	XP_016862814.1:p.Leu889SerfsTer?
NM_000388.4:c.2665_2680del MANE Select	NP_000379.3:p.Leu889SerfsTer?
NM_001178065.2:c.2695_2710del	NP_001171536.2:p.Leu899SerfsTer?