Canonical Allele Identifier: CA2551792682
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122261733_122261734insACTTGAATTGATTCTTGTTGCTGA , CM000665.2:g.122261733_122261734insACTTGAATTGATTCTTGTTGCTGA GRCh38
NC_000003.11:g.121980580_121980581insACTTGAATTGATTCTTGTTGCTGA , CM000665.1:g.121980580_121980581insACTTGAATTGATTCTTGTTGCTGA GRCh37
NC_000003.10:g.123463270_123463271insACTTGAATTGATTCTTGTTGCTGA NCBI36
NG_009058.1:g.83051_83052insACTTGAATTGATTCTTGTTGCTGA
NG_009058.2:g.83066_83067insACTTGAATTGATTCTTGTTGCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.698_699insACTTGAATTGATTCTTGTTGCTGA ENSP00000418685.2:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
ENST00000498619.4:c.698_699insACTTGAATTGATTCTTGTTGCTGA ENSP00000420194.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
ENST00000638421.1:c.698_699insACTTGAATTGATTCTTGTTGCTGA ENSP00000492190.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
ENST00000639785.2:c.698_699insACTTGAATTGATTCTTGTTGCTGA MANE Select ENSP00000491584.2:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
ENST00000490131.5:c.698_699insACTTGAATTGATTCTTGTTGCTGA ENSP00000418685.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
ENST00000498619.2:c.698_699insACTTGAATTGATTCTTGTTGCTGA ENSP00000420194.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
NM_000388.3:c.698_699insACTTGAATTGATTCTTGTTGCTGA NP_000379.2:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
NM_001178065.1:c.698_699insACTTGAATTGATTCTTGTTGCTGA NP_001171536.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
XM_005247836.2:c.698_699insACTTGAATTGATTCTTGTTGCTGA XP_005247893.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
XM_005247837.2:c.215_216insACTTGAATTGATTCTTGTTGCTGA XP_005247894.1:p.Arg72_Asp73insLeuGluLeuIleLeuValAlaGlu
XM_006713789.2:c.698_699insACTTGAATTGATTCTTGTTGCTGA XP_006713852.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
XM_011513237.1:c.698_699insACTTGAATTGATTCTTGTTGCTGA XP_011511539.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
XM_011513238.1:c.698_699insACTTGAATTGATTCTTGTTGCTGA XP_011511540.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
XM_011513239.1:c.110_111insACTTGAATTGATTCTTGTTGCTGA XP_011511541.1:p.Arg37_Asp38insLeuGluLeuIleLeuValAlaGlu
XM_006713789.3:c.698_699insACTTGAATTGATTCTTGTTGCTGA XP_006713852.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
XM_017007324.1:c.698_699insACTTGAATTGATTCTTGTTGCTGA XP_016862813.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
XM_017007325.1:c.698_699insACTTGAATTGATTCTTGTTGCTGA XP_016862814.1:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
NM_000388.4:c.698_699insACTTGAATTGATTCTTGTTGCTGA MANE Select NP_000379.3:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu
NM_001178065.2:c.698_699insACTTGAATTGATTCTTGTTGCTGA NP_001171536.2:p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu