Canonical Allele Identifier: CA2577870023

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122262155_122262156del , CM000665.2:g.122262155_122262156del	GRCh38
NC_000003.11:g.121981002_121981003del , CM000665.1:g.121981002_121981003del	GRCh37
NC_000003.10:g.123463692_123463693del	NCBI36
NG_009058.1:g.83473_83474del
NG_009058.2:g.83488_83489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1120_1121del	ENSP00000418685.2:p.Leu374GlufsTer11
ENST00000498619.4:c.1120_1121del	ENSP00000420194.1:p.Leu374GlufsTer11
ENST00000638421.1:c.1120_1121del	ENSP00000492190.1:p.Leu374GlufsTer11
ENST00000639785.2:c.1120_1121del MANE Select	ENSP00000491584.2:p.Leu374GlufsTer11
ENST00000490131.5:c.1120_1121del	ENSP00000418685.1:p.Leu374GlufsTer11
ENST00000498619.2:c.1120_1121del	ENSP00000420194.1:p.Leu374GlufsTer11
NM_000388.3:c.1120_1121del	NP_000379.2:p.Leu374GlufsTer11
NM_001178065.1:c.1120_1121del	NP_001171536.1:p.Leu374GlufsTer11
XM_005247836.2:c.1120_1121del	XP_005247893.1:p.Leu374GlufsTer11
XM_005247837.2:c.637_638del	XP_005247894.1:p.Leu213GlufsTer11
XM_006713789.2:c.1120_1121del	XP_006713852.1:p.Leu374GlufsTer11
XM_011513237.1:c.1120_1121del	XP_011511539.1:p.Leu374GlufsTer11
XM_011513238.1:c.1120_1121del	XP_011511540.1:p.Leu374GlufsTer11
XM_011513239.1:c.532_533del	XP_011511541.1:p.Leu178GlufsTer11
XM_006713789.3:c.1120_1121del	XP_006713852.1:p.Leu374GlufsTer11
XM_017007324.1:c.1120_1121del	XP_016862813.1:p.Leu374GlufsTer11
XM_017007325.1:c.1120_1121del	XP_016862814.1:p.Leu374GlufsTer11
NM_000388.4:c.1120_1121del MANE Select	NP_000379.3:p.Leu374GlufsTer11
NM_001178065.2:c.1120_1121del	NP_001171536.2:p.Leu374GlufsTer11