Canonical Allele Identifier: CA2586972803
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122261742_122261750del , CM000665.2:g.122261742_122261750del GRCh38
NC_000003.11:g.121980589_121980597del , CM000665.1:g.121980589_121980597del GRCh37
NC_000003.10:g.123463279_123463287del NCBI36
NG_009058.1:g.83060_83068del
NG_009058.2:g.83075_83083del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.707_715del ENSP00000418685.2:p.Cys236_Asp238del
ENST00000498619.4:c.707_715del ENSP00000420194.1:p.Cys236_Asp238del
ENST00000638421.1:c.707_715del ENSP00000492190.1:p.Cys236_Asp238del
ENST00000639785.2:c.707_715del MANE Select ENSP00000491584.2:p.Cys236_Asp238del
ENST00000490131.5:c.707_715del ENSP00000418685.1:p.Cys236_Asp238del
ENST00000498619.2:c.707_715del ENSP00000420194.1:p.Cys236_Asp238del
NM_000388.3:c.707_715del NP_000379.2:p.Cys236_Asp238del
NM_001178065.1:c.707_715del NP_001171536.1:p.Cys236_Asp238del
XM_005247836.2:c.707_715del XP_005247893.1:p.Cys236_Asp238del
XM_005247837.2:c.224_232del XP_005247894.1:p.Cys75_Asp77del
XM_006713789.2:c.707_715del XP_006713852.1:p.Cys236_Asp238del
XM_011513237.1:c.707_715del XP_011511539.1:p.Cys236_Asp238del
XM_011513238.1:c.707_715del XP_011511540.1:p.Cys236_Asp238del
XM_011513239.1:c.119_127del XP_011511541.1:p.Cys40_Asp42del
XM_006713789.3:c.707_715del XP_006713852.1:p.Cys236_Asp238del
XM_017007324.1:c.707_715del XP_016862813.1:p.Cys236_Asp238del
XM_017007325.1:c.707_715del XP_016862814.1:p.Cys236_Asp238del
NM_000388.4:c.707_715del MANE Select NP_000379.3:p.Cys236_Asp238del
NM_001178065.2:c.707_715del NP_001171536.2:p.Cys236_Asp238del