Canonical Allele Identifier: CA435425371
Gene: CASR HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.122003527del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284684del , CM000665.2:g.122284684del GRCh38
NC_000003.11:g.122003531del , CM000665.1:g.122003531del GRCh37
NC_000003.10:g.123486221del NCBI36
NG_009058.1:g.106002del
NG_009058.2:g.106017del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2499del ENSP00000418685.2:p.Ser834ProfsTer28
ENST00000498619.4:c.2760del ENSP00000420194.1:p.Ser921ProfsTer28
ENST00000638421.1:c.2730del ENSP00000492190.1:p.Ser911ProfsTer28
ENST00000639785.2:c.2730del MANE Select ENSP00000491584.2:p.Ser911ProfsTer28
ENST00000490131.5:c.2730del ENSP00000418685.1:p.Ser911ProfsTer28
ENST00000498619.2:c.2760del ENSP00000420194.1:p.Ser921ProfsTer28
NM_000388.3:c.2730del NP_000379.2:p.Ser911ProfsTer28
NM_001178065.1:c.2760del NP_001171536.1:p.Ser921ProfsTer28
XM_005247836.2:c.2730del XP_005247893.1:p.Ser911ProfsTer28
XM_005247837.2:c.2247del XP_005247894.1:p.Ser750ProfsTer28
XM_006713789.2:c.2730del XP_006713852.1:p.Ser911ProfsTer28
XM_011513237.1:c.2730del XP_011511539.1:p.Ser911ProfsTer28
XM_011513238.1:c.2730del XP_011511540.1:p.Ser911ProfsTer28
XM_011513239.1:c.2142del XP_011511541.1:p.Ser715ProfsTer28
XM_006713789.3:c.2730del XP_006713852.1:p.Ser911ProfsTer28
XM_017007324.1:c.2730del XP_016862813.1:p.Ser911ProfsTer28
XM_017007325.1:c.2730del XP_016862814.1:p.Ser911ProfsTer28
NM_000388.4:c.2730del MANE Select NP_000379.3:p.Ser911ProfsTer28
NM_001178065.2:c.2760del NP_001171536.2:p.Ser921ProfsTer28