Canonical Allele Identifier: CA2499216416

Gene: CASR

Linked Data

• ClinVar Variation Id: 1106072
• ClinVar RCV Id: RCV001430695
• dbSNP Id: rs2107651579

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284909_122284910delinsTT , CM000665.2:g.122284909_122284910delinsTT	GRCh38
NC_000003.11:g.122003756_122003757delinsTT , CM000665.1:g.122003756_122003757delinsTT	GRCh37
NC_000003.10:g.123486446_123486447delinsTT	NCBI36
NG_009058.1:g.106227_106228delinsTT
NG_009058.2:g.106242_106243delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2724_2725delinsTT	ENSP00000418685.2:p.Ala909Ser
ENST00000498619.4:c.2985_2986delinsTT	ENSP00000420194.1:p.Ala996Ser
ENST00000638421.1:c.2955_2956delinsTT	ENSP00000492190.1:p.Ala986Ser
ENST00000639785.2:c.2955_2956delinsTT MANE Select	ENSP00000491584.2:p.Ala986Ser
ENST00000490131.5:c.2955_2956delinsTT	ENSP00000418685.1:p.Ala986Ser
ENST00000498619.2:c.2985_2986delinsTT	ENSP00000420194.1:p.Ala996Ser
NM_000388.3:c.2955_2956delinsTT	NP_000379.2:p.Ala986Ser
NM_001178065.1:c.2985_2986delinsTT	NP_001171536.1:p.Ala996Ser
XM_005247836.2:c.2955_2956delinsTT	XP_005247893.1:p.Ala986Ser
XM_005247837.2:c.2472_2473delinsTT	XP_005247894.1:p.Ala825Ser
XM_006713789.2:c.2955_2956delinsTT	XP_006713852.1:p.Ala986Ser
XM_011513237.1:c.2955_2956delinsTT	XP_011511539.1:p.Ala986Ser
XM_011513238.1:c.2955_2956delinsTT	XP_011511540.1:p.Ala986Ser
XM_011513239.1:c.2367_2368delinsTT	XP_011511541.1:p.Ala790Ser
XM_006713789.3:c.2955_2956delinsTT	XP_006713852.1:p.Ala986Ser
XM_017007324.1:c.2955_2956delinsTT	XP_016862813.1:p.Ala986Ser
XM_017007325.1:c.2955_2956delinsTT	XP_016862814.1:p.Ala986Ser
NM_000388.4:c.2955_2956delinsTT MANE Select	NP_000379.3:p.Ala986Ser
NM_001178065.2:c.2985_2986delinsTT	NP_001171536.2:p.Ala996Ser