Canonical Allele Identifier: CA913189536

Gene: CASR

Linked Data

• ClinVar Variation Id: 598322
• ClinVar RCV Id: RCV000734689
• dbSNP Id: rs1559956616

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257218del , CM000665.2:g.122257218del	GRCh38
NC_000003.11:g.121976065del , CM000665.1:g.121976065del	GRCh37
NC_000003.10:g.123458755del	NCBI36
NG_009058.1:g.78536del
NG_009058.2:g.78551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.323del	ENSP00000418685.2:p.Leu108TrpfsTer5
ENST00000498619.4:c.323del	ENSP00000420194.1:p.Leu108TrpfsTer5
ENST00000638296.1:n.242del
ENST00000638421.1:c.323del	ENSP00000492190.1:p.Leu108TrpfsTer5
ENST00000639785.2:c.323del MANE Select	ENSP00000491584.2:p.Leu108TrpfsTer5
ENST00000490131.5:c.323del	ENSP00000418685.1:p.Leu108TrpfsTer5
ENST00000490186.1:n.182del
ENST00000498619.2:c.323del	ENSP00000420194.1:p.Leu108TrpfsTer5
NM_000388.3:c.323del	NP_000379.2:p.Leu108TrpfsTer5
NM_001178065.1:c.323del	NP_001171536.1:p.Leu108TrpfsTer5
XM_005247836.2:c.323del	XP_005247893.1:p.Leu108TrpfsTer5
XM_005247837.2:c.9+2844del	XP_005247894.1:n.9+2844del
XM_006713789.2:c.323del	XP_006713852.1:p.Leu108TrpfsTer5
XM_011513237.1:c.323del	XP_011511539.1:p.Leu108TrpfsTer5
XM_011513238.1:c.323del	XP_011511540.1:p.Leu108TrpfsTer5
XM_006713789.3:c.323del	XP_006713852.1:p.Leu108TrpfsTer5
XM_017007324.1:c.323del	XP_016862813.1:p.Leu108TrpfsTer5
XM_017007325.1:c.323del	XP_016862814.1:p.Leu108TrpfsTer5
NM_000388.4:c.323del MANE Select	NP_000379.3:p.Leu108TrpfsTer5
NM_001178065.2:c.323del	NP_001171536.2:p.Leu108TrpfsTer5