Canonical Allele Identifier: CA2573136445

Gene: CASR

Linked Data

• ClinVar Variation Id: 1373420
• ClinVar RCV Id: RCV001900365
• dbSNP Id: rs2107649366

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283713dup , CM000665.2:g.122283713dup	GRCh38
NC_000003.11:g.122002560dup , CM000665.1:g.122002560dup	GRCh37
NC_000003.10:g.123485250dup	NCBI36
NG_009058.1:g.105031dup
NG_009058.2:g.105046dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.1528dup	ENSP00000418685.2:p.Asp510GlyfsTer2
ENST00000498619.4:c.1789dup	ENSP00000420194.1:p.Asp597GlyfsTer2
ENST00000638421.1:c.1759dup	ENSP00000492190.1:p.Asp587GlyfsTer2
ENST00000639785.2:c.1759dup MANE Select	ENSP00000491584.2:p.Asp587GlyfsTer2
ENST00000490131.5:c.1759dup	ENSP00000418685.1:p.Asp587GlyfsTer2
ENST00000498619.2:c.1789dup	ENSP00000420194.1:p.Asp597GlyfsTer2
NM_000388.3:c.1759dup	NP_000379.2:p.Asp587GlyfsTer2
NM_001178065.1:c.1789dup	NP_001171536.1:p.Asp597GlyfsTer2
XM_005247836.2:c.1759dup	XP_005247893.1:p.Asp587GlyfsTer2
XM_005247837.2:c.1276dup	XP_005247894.1:p.Asp426GlyfsTer2
XM_006713789.2:c.1759dup	XP_006713852.1:p.Asp587GlyfsTer2
XM_011513237.1:c.1759dup	XP_011511539.1:p.Asp587GlyfsTer2
XM_011513238.1:c.1759dup	XP_011511540.1:p.Asp587GlyfsTer2
XM_011513239.1:c.1171dup	XP_011511541.1:p.Asp391GlyfsTer2
XM_006713789.3:c.1759dup	XP_006713852.1:p.Asp587GlyfsTer2
XM_017007324.1:c.1759dup	XP_016862813.1:p.Asp587GlyfsTer2
XM_017007325.1:c.1759dup	XP_016862814.1:p.Asp587GlyfsTer2
NM_000388.4:c.1759dup MANE Select	NP_000379.3:p.Asp587GlyfsTer2
NM_001178065.2:c.1789dup	NP_001171536.2:p.Asp597GlyfsTer2