Canonical Allele Identifier: CA2586972809

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122262302_122262303delinsAA , CM000665.2:g.122262302_122262303delinsAA	GRCh38
NC_000003.11:g.121981149_121981150delinsAA , CM000665.1:g.121981149_121981150delinsAA	GRCh37
NC_000003.10:g.123463839_123463840delinsAA	NCBI36
NG_009058.1:g.83620_83621delinsAA
NG_009058.2:g.83635_83636delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1267_1268delinsAA	ENSP00000418685.2:p.Ala423Lys
ENST00000498619.4:c.1267_1268delinsAA	ENSP00000420194.1:p.Ala423Lys
ENST00000638421.1:c.1267_1268delinsAA	ENSP00000492190.1:p.Ala423Lys
ENST00000639785.2:c.1267_1268delinsAA MANE Select	ENSP00000491584.2:p.Ala423Lys
ENST00000490131.5:c.1267_1268delinsAA	ENSP00000418685.1:p.Ala423Lys
ENST00000498619.2:c.1267_1268delinsAA	ENSP00000420194.1:p.Ala423Lys
NM_000388.3:c.1267_1268delinsAA	NP_000379.2:p.Ala423Lys
NM_001178065.1:c.1267_1268delinsAA	NP_001171536.1:p.Ala423Lys
XM_005247836.2:c.1267_1268delinsAA	XP_005247893.1:p.Ala423Lys
XM_005247837.2:c.784_785delinsAA	XP_005247894.1:p.Ala262Lys
XM_006713789.2:c.1267_1268delinsAA	XP_006713852.1:p.Ala423Lys
XM_011513237.1:c.1267_1268delinsAA	XP_011511539.1:p.Ala423Lys
XM_011513238.1:c.1267_1268delinsAA	XP_011511540.1:p.Ala423Lys
XM_011513239.1:c.679_680delinsAA	XP_011511541.1:p.Ala227Lys
XM_006713789.3:c.1267_1268delinsAA	XP_006713852.1:p.Ala423Lys
XM_017007324.1:c.1267_1268delinsAA	XP_016862813.1:p.Ala423Lys
XM_017007325.1:c.1267_1268delinsAA	XP_016862814.1:p.Ala423Lys
NM_000388.4:c.1267_1268delinsAA MANE Select	NP_000379.3:p.Ala423Lys
NM_001178065.2:c.1267_1268delinsAA	NP_001171536.2:p.Ala423Lys