Canonical Allele Identifier: CA891842856

Gene: CASR

Linked Data

• ClinVar Variation Id: 574086
• ClinVar RCV Id: RCV002532337
• dbSNP Id: rs1559956508

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257094delinsTTCGCT , CM000665.2:g.122257094delinsTTCGCT	GRCh38
NC_000003.11:g.121975941delinsTTCGCT , CM000665.1:g.121975941delinsTTCGCT	GRCh37
NC_000003.10:g.123458631delinsTTCGCT	NCBI36
NG_009058.1:g.78412delinsTTCGCT
NG_009058.2:g.78427delinsTTCGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.199delinsTTCGCT	ENSP00000418685.2:p.Gly67PhefsTer10
ENST00000498619.4:c.199delinsTTCGCT	ENSP00000420194.1:p.Gly67PhefsTer10
ENST00000638296.1:n.118delinsTTCGCT
ENST00000638421.1:c.199delinsTTCGCT	ENSP00000492190.1:p.Gly67PhefsTer10
ENST00000639785.2:c.199delinsTTCGCT MANE Select	ENSP00000491584.2:p.Gly67PhefsTer10
ENST00000490131.5:c.199delinsTTCGCT	ENSP00000418685.1:p.Gly67PhefsTer10
ENST00000490186.1:n.58delinsTTCGCT
ENST00000498619.2:c.199delinsTTCGCT	ENSP00000420194.1:p.Gly67PhefsTer10
NM_000388.3:c.199delinsTTCGCT	NP_000379.2:p.Gly67PhefsTer10
NM_001178065.1:c.199delinsTTCGCT	NP_001171536.1:p.Gly67PhefsTer10
XM_005247836.2:c.199delinsTTCGCT	XP_005247893.1:p.Gly67PhefsTer10
XM_005247837.2:c.9+2720delinsTTCGCT	XP_005247894.1:n.9+2720delinsTTCGCT
XM_006713789.2:c.199delinsTTCGCT	XP_006713852.1:p.Gly67PhefsTer10
XM_011513237.1:c.199delinsTTCGCT	XP_011511539.1:p.Gly67PhefsTer10
XM_011513238.1:c.199delinsTTCGCT	XP_011511540.1:p.Gly67PhefsTer10
XM_006713789.3:c.199delinsTTCGCT	XP_006713852.1:p.Gly67PhefsTer10
XM_017007324.1:c.199delinsTTCGCT	XP_016862813.1:p.Gly67PhefsTer10
XM_017007325.1:c.199delinsTTCGCT	XP_016862814.1:p.Gly67PhefsTer10
NM_000388.4:c.199delinsTTCGCT MANE Select	NP_000379.3:p.Gly67PhefsTer10
NM_001178065.2:c.199delinsTTCGCT	NP_001171536.2:p.Gly67PhefsTer10