Canonical Allele Identifier: CA915941530

Gene: CASR

Linked Data

• ClinVar Variation Id: 804661
• ClinVar RCV Id: RCV000991740
• dbSNP Id: rs1576877163

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283867dup , CM000665.2:g.122283867dup	GRCh38
NC_000003.11:g.122002714dup , CM000665.1:g.122002714dup	GRCh37
NC_000003.10:g.123485404dup	NCBI36
NG_009058.1:g.105185dup
NG_009058.2:g.105200dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.1682dup	ENSP00000418685.2:p.Asn562GlnfsTer?
ENST00000498619.4:c.1943dup	ENSP00000420194.1:p.Asn649GlnfsTer?
ENST00000638421.1:c.1913dup	ENSP00000492190.1:p.Asn639GlnfsTer?
ENST00000639785.2:c.1913dup MANE Select	ENSP00000491584.2:p.Asn639GlnfsTer?
ENST00000490131.5:c.1913dup	ENSP00000418685.1:p.Asn639GlnfsTer?
ENST00000498619.2:c.1943dup	ENSP00000420194.1:p.Asn649GlnfsTer?
NM_000388.3:c.1913dup	NP_000379.2:p.Asn639GlnfsTer?
NM_001178065.1:c.1943dup	NP_001171536.1:p.Asn649GlnfsTer?
XM_005247836.2:c.1913dup	XP_005247893.1:p.Asn639GlnfsTer?
XM_005247837.2:c.1430dup	XP_005247894.1:p.Asn478GlnfsTer?
XM_006713789.2:c.1913dup	XP_006713852.1:p.Asn639GlnfsTer?
XM_011513237.1:c.1913dup	XP_011511539.1:p.Asn639GlnfsTer?
XM_011513238.1:c.1913dup	XP_011511540.1:p.Asn639GlnfsTer?
XM_011513239.1:c.1325dup	XP_011511541.1:p.Asn443GlnfsTer?
XM_006713789.3:c.1913dup	XP_006713852.1:p.Asn639GlnfsTer?
XM_017007324.1:c.1913dup	XP_016862813.1:p.Asn639GlnfsTer?
XM_017007325.1:c.1913dup	XP_016862814.1:p.Asn639GlnfsTer?
NM_000388.4:c.1913dup MANE Select	NP_000379.3:p.Asn639GlnfsTer?
NM_001178065.2:c.1943dup	NP_001171536.2:p.Asn649GlnfsTer?