Canonical Allele Identifier: CA2499216416
Gene: CASR HGNC NCBI

Linked Data

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