Canonical Allele Identifier: CA2586972807

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122262066_122262069delinsT , CM000665.2:g.122262066_122262069delinsT	GRCh38
NC_000003.11:g.121980913_121980916delinsT , CM000665.1:g.121980913_121980916delinsT	GRCh37
NC_000003.10:g.123463603_123463606delinsT	NCBI36
NG_009058.1:g.83384_83387delinsT
NG_009058.2:g.83399_83402delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1031_1034delinsT	ENSP00000418685.2:p.His344_Asn345delinsLeu
ENST00000498619.4:c.1031_1034delinsT	ENSP00000420194.1:p.His344_Asn345delinsLeu
ENST00000638421.1:c.1031_1034delinsT	ENSP00000492190.1:p.His344_Asn345delinsLeu
ENST00000639785.2:c.1031_1034delinsT MANE Select	ENSP00000491584.2:p.His344_Asn345delinsLeu
ENST00000490131.5:c.1031_1034delinsT	ENSP00000418685.1:p.His344_Asn345delinsLeu
ENST00000498619.2:c.1031_1034delinsT	ENSP00000420194.1:p.His344_Asn345delinsLeu
NM_000388.3:c.1031_1034delinsT	NP_000379.2:p.His344_Asn345delinsLeu
NM_001178065.1:c.1031_1034delinsT	NP_001171536.1:p.His344_Asn345delinsLeu
XM_005247836.2:c.1031_1034delinsT	XP_005247893.1:p.His344_Asn345delinsLeu
XM_005247837.2:c.548_551delinsT	XP_005247894.1:p.His183_Asn184delinsLeu
XM_006713789.2:c.1031_1034delinsT	XP_006713852.1:p.His344_Asn345delinsLeu
XM_011513237.1:c.1031_1034delinsT	XP_011511539.1:p.His344_Asn345delinsLeu
XM_011513238.1:c.1031_1034delinsT	XP_011511540.1:p.His344_Asn345delinsLeu
XM_011513239.1:c.443_446delinsT	XP_011511541.1:p.His148_Asn149delinsLeu
XM_006713789.3:c.1031_1034delinsT	XP_006713852.1:p.His344_Asn345delinsLeu
XM_017007324.1:c.1031_1034delinsT	XP_016862813.1:p.His344_Asn345delinsLeu
XM_017007325.1:c.1031_1034delinsT	XP_016862814.1:p.His344_Asn345delinsLeu
NM_000388.4:c.1031_1034delinsT MANE Select	NP_000379.3:p.His344_Asn345delinsLeu
NM_001178065.2:c.1031_1034delinsT	NP_001171536.2:p.His344_Asn345delinsLeu