Canonical Allele Identifier: CA2522536752

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261786_122261790del , CM000665.2:g.122261786_122261790del	GRCh38
NC_000003.11:g.121980633_121980637del , CM000665.1:g.121980633_121980637del	GRCh37
NC_000003.10:g.123463323_123463327del	NCBI36
NG_009058.1:g.83104_83108del
NG_009058.2:g.83119_83123del

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.751_755del	ENSP00000418685.2:p.Glu251ProfsTer25
ENST00000498619.4:c.751_755del	ENSP00000420194.1:p.Glu251ProfsTer25
ENST00000638421.1:c.751_755del	ENSP00000492190.1:p.Glu251ProfsTer25
ENST00000639785.2:c.751_755del MANE Select	ENSP00000491584.2:p.Glu251ProfsTer25
ENST00000490131.5:c.751_755del	ENSP00000418685.1:p.Glu251ProfsTer25
ENST00000498619.2:c.751_755del	ENSP00000420194.1:p.Glu251ProfsTer25
NM_000388.3:c.751_755del	NP_000379.2:p.Glu251ProfsTer25
NM_001178065.1:c.751_755del	NP_001171536.1:p.Glu251ProfsTer25
XM_005247836.2:c.751_755del	XP_005247893.1:p.Glu251ProfsTer25
XM_005247837.2:c.268_272del	XP_005247894.1:p.Glu90ProfsTer25
XM_006713789.2:c.751_755del	XP_006713852.1:p.Glu251ProfsTer25
XM_011513237.1:c.751_755del	XP_011511539.1:p.Glu251ProfsTer25
XM_011513238.1:c.751_755del	XP_011511540.1:p.Glu251ProfsTer25
XM_011513239.1:c.163_167del	XP_011511541.1:p.Glu55ProfsTer25
XM_006713789.3:c.751_755del	XP_006713852.1:p.Glu251ProfsTer25
XM_017007324.1:c.751_755del	XP_016862813.1:p.Glu251ProfsTer25
XM_017007325.1:c.751_755del	XP_016862814.1:p.Glu251ProfsTer25
NM_000388.4:c.751_755del MANE Select	NP_000379.3:p.Glu251ProfsTer25
NM_001178065.2:c.751_755del	NP_001171536.2:p.Glu251ProfsTer25