Canonical Allele Identifier: CA645526044
Gene: CASR HGNC NCBI

Linked Data

COSMIC: COSM143506

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284721_122284722delinsTT , CM000665.2:g.122284721_122284722delinsTT GRCh38
NC_000003.11:g.122003568_122003569delinsTT , CM000665.1:g.122003568_122003569delinsTT GRCh37
NC_000003.10:g.123486258_123486259delinsTT NCBI36
NG_009058.1:g.106039_106040delinsTT
NG_009058.2:g.106054_106055delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2536_2537delinsTT ENSP00000418685.2:p.Pro846Leu
ENST00000498619.4:c.2797_2798delinsTT ENSP00000420194.1:p.Pro933Leu
ENST00000638421.1:c.2767_2768delinsTT ENSP00000492190.1:p.Pro923Leu
ENST00000639785.2:c.2767_2768delinsTT MANE Select ENSP00000491584.2:p.Pro923Leu
ENST00000490131.5:c.2767_2768delinsTT ENSP00000418685.1:p.Pro923Leu
ENST00000498619.2:c.2797_2798delinsTT ENSP00000420194.1:p.Pro933Leu
NM_000388.3:c.2767_2768delinsTT NP_000379.2:p.Pro923Leu
NM_001178065.1:c.2797_2798delinsTT NP_001171536.1:p.Pro933Leu
XM_005247836.2:c.2767_2768delinsTT XP_005247893.1:p.Pro923Leu
XM_005247837.2:c.2284_2285delinsTT XP_005247894.1:p.Pro762Leu
XM_006713789.2:c.2767_2768delinsTT XP_006713852.1:p.Pro923Leu
XM_011513237.1:c.2767_2768delinsTT XP_011511539.1:p.Pro923Leu
XM_011513238.1:c.2767_2768delinsTT XP_011511540.1:p.Pro923Leu
XM_011513239.1:c.2179_2180delinsTT XP_011511541.1:p.Pro727Leu
XM_006713789.3:c.2767_2768delinsTT XP_006713852.1:p.Pro923Leu
XM_017007324.1:c.2767_2768delinsTT XP_016862813.1:p.Pro923Leu
XM_017007325.1:c.2767_2768delinsTT XP_016862814.1:p.Pro923Leu
NM_000388.4:c.2767_2768delinsTT MANE Select NP_000379.3:p.Pro923Leu
NM_001178065.2:c.2797_2798delinsTT NP_001171536.2:p.Pro933Leu