Canonical Allele Identifier: CA645532165
Community Standard Title: NM_000388.4(CASR):c.1670_1671delinsAA (p.Gly557Glu)
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122282174_122282175delinsAA , CM000665.2:g.122282174_122282175delinsAA GRCh38
NC_000003.11:g.122001021_122001022delinsAA , CM000665.1:g.122001021_122001022delinsAA GRCh37
NC_000003.10:g.123483711_123483712delinsAA NCBI36
NG_009058.1:g.103492_103493delinsAA
NG_009058.2:g.103507_103508delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_000388.4:c.1670_1671delinsAA MANE Select NP_000379.3:p.Gly557Glu
ENST00000639785.2:c.1670_1671delinsAA MANE Select ENSP00000491584.2:p.Gly557Glu
NM_000388.3:c.1670_1671delinsAA NP_000379.2:p.Gly557Glu
NM_001178065.1:c.1700_1701delinsAA NP_001171536.1:p.Gly567Glu
NM_001178065.2:c.1700_1701delinsAA NP_001171536.2:p.Gly567Glu
ENST00000490131.5:c.1670_1671delinsAA ENSP00000418685.1:p.Gly557Glu
ENST00000490131.7:c.1439_1440delinsAA ENSP00000418685.2:p.Gly480Glu
ENST00000498619.2:c.1700_1701delinsAA ENSP00000420194.1:p.Gly567Glu
ENST00000498619.4:c.1700_1701delinsAA ENSP00000420194.1:p.Gly567Glu
ENST00000638421.1:c.1670_1671delinsAA ENSP00000492190.1:p.Gly557Glu
XM_005247836.2:c.1670_1671delinsAA XP_005247893.1:p.Gly557Glu
XM_005247837.2:c.1187_1188delinsAA XP_005247894.1:p.Gly396Glu
XM_006713789.2:c.1670_1671delinsAA XP_006713852.1:p.Gly557Glu
XM_006713789.3:c.1670_1671delinsAA XP_006713852.1:p.Gly557Glu
XM_011513237.1:c.1670_1671delinsAA XP_011511539.1:p.Gly557Glu
XM_011513238.1:c.1670_1671delinsAA XP_011511540.1:p.Gly557Glu
XM_011513239.1:c.1082_1083delinsAA XP_011511541.1:p.Gly361Glu
XM_017007324.1:c.1670_1671delinsAA XP_016862813.1:p.Gly557Glu
XM_017007325.1:c.1670_1671delinsAA XP_016862814.1:p.Gly557Glu