Canonical Allele Identifier: CA2580068664

Gene: CASR

Linked Data

• ClinVar Variation Id: 1988969
• ClinVar RCV Id: RCV002786271

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284580_122284587del , CM000665.2:g.122284580_122284587del	GRCh38
NC_000003.11:g.122003427_122003434del , CM000665.1:g.122003427_122003434del	GRCh37
NC_000003.10:g.123486117_123486124del	NCBI36
NG_009058.1:g.105898_105905del
NG_009058.2:g.105913_105920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2395_2402del	ENSP00000418685.2:p.Thr799SerfsTer?
ENST00000498619.4:c.2656_2663del	ENSP00000420194.1:p.Thr886SerfsTer?
ENST00000638421.1:c.2626_2633del	ENSP00000492190.1:p.Thr876SerfsTer?
ENST00000639785.2:c.2626_2633del MANE Select	ENSP00000491584.2:p.Thr876SerfsTer?
ENST00000490131.5:c.2626_2633del	ENSP00000418685.1:p.Thr876SerfsTer?
ENST00000498619.2:c.2656_2663del	ENSP00000420194.1:p.Thr886SerfsTer?
NM_000388.3:c.2626_2633del	NP_000379.2:p.Thr876SerfsTer?
NM_001178065.1:c.2656_2663del	NP_001171536.1:p.Thr886SerfsTer?
XM_005247836.2:c.2626_2633del	XP_005247893.1:p.Thr876SerfsTer?
XM_005247837.2:c.2143_2150del	XP_005247894.1:p.Thr715SerfsTer?
XM_006713789.2:c.2626_2633del	XP_006713852.1:p.Thr876SerfsTer?
XM_011513237.1:c.2626_2633del	XP_011511539.1:p.Thr876SerfsTer?
XM_011513238.1:c.2626_2633del	XP_011511540.1:p.Thr876SerfsTer?
XM_011513239.1:c.2038_2045del	XP_011511541.1:p.Thr680SerfsTer?
XM_006713789.3:c.2626_2633del	XP_006713852.1:p.Thr876SerfsTer?
XM_017007324.1:c.2626_2633del	XP_016862813.1:p.Thr876SerfsTer?
XM_017007325.1:c.2626_2633del	XP_016862814.1:p.Thr876SerfsTer?
NM_000388.4:c.2626_2633del MANE Select	NP_000379.3:p.Thr876SerfsTer?
NM_001178065.2:c.2656_2663del	NP_001171536.2:p.Thr886SerfsTer?