Canonical Allele Identifier: CA1139658226

Gene: CASR

Linked Data

• ClinVar Variation Id: 950326
• ClinVar RCV Id: RCV001222013
• dbSNP Id: rs2074924614

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283852_122283886dup , CM000665.2:g.122283852_122283886dup	GRCh38
NC_000003.11:g.122002699_122002733dup , CM000665.1:g.122002699_122002733dup	GRCh37
NC_000003.10:g.123485389_123485423dup	NCBI36
NG_009058.1:g.105170_105204dup
NG_009058.2:g.105185_105219dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.1667_1701dup	ENSP00000418685.2:p.Ala568CysfsTer?
ENST00000498619.4:c.1928_1962dup	ENSP00000420194.1:p.Ala655CysfsTer?
ENST00000638421.1:c.1898_1932dup	ENSP00000492190.1:p.Ala645CysfsTer?
ENST00000639785.2:c.1898_1932dup MANE Select	ENSP00000491584.2:p.Ala645CysfsTer?
ENST00000490131.5:c.1898_1932dup	ENSP00000418685.1:p.Ala645CysfsTer?
ENST00000498619.2:c.1928_1962dup	ENSP00000420194.1:p.Ala655CysfsTer?
NM_000388.3:c.1898_1932dup	NP_000379.2:p.Ala645CysfsTer?
NM_001178065.1:c.1928_1962dup	NP_001171536.1:p.Ala655CysfsTer?
XM_005247836.2:c.1898_1932dup	XP_005247893.1:p.Ala645CysfsTer?
XM_005247837.2:c.1415_1449dup	XP_005247894.1:p.Ala484CysfsTer?
XM_006713789.2:c.1898_1932dup	XP_006713852.1:p.Ala645CysfsTer?
XM_011513237.1:c.1898_1932dup	XP_011511539.1:p.Ala645CysfsTer?
XM_011513238.1:c.1898_1932dup	XP_011511540.1:p.Ala645CysfsTer?
XM_011513239.1:c.1310_1344dup	XP_011511541.1:p.Ala449CysfsTer?
XM_006713789.3:c.1898_1932dup	XP_006713852.1:p.Ala645CysfsTer?
XM_017007324.1:c.1898_1932dup	XP_016862813.1:p.Ala645CysfsTer?
XM_017007325.1:c.1898_1932dup	XP_016862814.1:p.Ala645CysfsTer?
NM_000388.4:c.1898_1932dup MANE Select	NP_000379.3:p.Ala645CysfsTer?
NM_001178065.2:c.1928_1962dup	NP_001171536.2:p.Ala655CysfsTer?