Canonical Allele Identifier: CA2586972805

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261840_122261850del , CM000665.2:g.122261840_122261850del	GRCh38
NC_000003.11:g.121980687_121980697del , CM000665.1:g.121980687_121980697del	GRCh37
NC_000003.10:g.123463377_123463387del	NCBI36
NG_009058.1:g.83158_83168del
NG_009058.2:g.83173_83183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.805_815del	ENSP00000418685.2:p.Val269TrpfsTer5
ENST00000498619.4:c.805_815del	ENSP00000420194.1:p.Val269TrpfsTer5
ENST00000638421.1:c.805_815del	ENSP00000492190.1:p.Val269TrpfsTer5
ENST00000639785.2:c.805_815del MANE Select	ENSP00000491584.2:p.Val269TrpfsTer5
ENST00000490131.5:c.805_815del	ENSP00000418685.1:p.Val269TrpfsTer5
ENST00000498619.2:c.805_815del	ENSP00000420194.1:p.Val269TrpfsTer5
NM_000388.3:c.805_815del	NP_000379.2:p.Val269TrpfsTer5
NM_001178065.1:c.805_815del	NP_001171536.1:p.Val269TrpfsTer5
XM_005247836.2:c.805_815del	XP_005247893.1:p.Val269TrpfsTer5
XM_005247837.2:c.322_332del	XP_005247894.1:p.Val108TrpfsTer5
XM_006713789.2:c.805_815del	XP_006713852.1:p.Val269TrpfsTer5
XM_011513237.1:c.805_815del	XP_011511539.1:p.Val269TrpfsTer5
XM_011513238.1:c.805_815del	XP_011511540.1:p.Val269TrpfsTer5
XM_011513239.1:c.217_227del	XP_011511541.1:p.Val73TrpfsTer5
XM_006713789.3:c.805_815del	XP_006713852.1:p.Val269TrpfsTer5
XM_017007324.1:c.805_815del	XP_016862813.1:p.Val269TrpfsTer5
XM_017007325.1:c.805_815del	XP_016862814.1:p.Val269TrpfsTer5
NM_000388.4:c.805_815del MANE Select	NP_000379.3:p.Val269TrpfsTer5
NM_001178065.2:c.805_815del	NP_001171536.2:p.Val269TrpfsTer5