Canonical Allele Identifier: CA1397870147

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257418_122257433delinsGAGCAGGATCAGAAGA , CM000665.2:g.122257418_122257433delinsGAGCAGGATCAGAAGA	GRCh38
NC_000003.11:g.121976265_121976280delinsGAGCAGGATCAGAAGA , CM000665.1:g.121976265_121976280delinsGAGCAGGATCAGAAGA	GRCh37
NC_000003.10:g.123458955_123458970delinsGAGCAGGATCAGAAGA	NCBI36
NG_009058.1:g.78736_78751delinsGAGCAGGATCAGAAGA
NG_009058.2:g.78751_78766delinsGAGCAGGATCAGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.492+31_492+46delinsGAGCAGGATCAGAAGA	ENSP00000418685.2:n.492+31_492+46delinsGAGCAGGATCAGAAGA
ENST00000498619.4:c.492+31_492+46delinsGAGCAGGATCAGAAGA	ENSP00000420194.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
ENST00000638296.1:n.442_457delinsGAGCAGGATCAGAAGA
ENST00000638421.1:c.492+31_492+46delinsGAGCAGGATCAGAAGA	ENSP00000492190.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
ENST00000639785.2:c.492+31_492+46delinsGAGCAGGATCAGAAGA MANE Select	ENSP00000491584.2:n.492+31_492+46delinsGAGCAGGATCAGAAGA
ENST00000490131.5:c.492+31_492+46delinsGAGCAGGATCAGAAGA	ENSP00000418685.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
ENST00000490186.1:n.382_397delinsGAGCAGGATCAGAAGA
ENST00000498619.2:c.492+31_492+46delinsGAGCAGGATCAGAAGA	ENSP00000420194.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
NM_000388.3:c.492+31_492+46delinsGAGCAGGATCAGAAGA	NP_000379.2:n.492+31_492+46delinsGAGCAGGATCAGAAGA
NM_001178065.1:c.492+31_492+46delinsGAGCAGGATCAGAAGA	NP_001171536.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
XM_005247836.2:c.492+31_492+46delinsGAGCAGGATCAGAAGA	XP_005247893.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
XM_005247837.2:c.9+3044_9+3059delinsGAGCAGGATCAGAAGA	XP_005247894.1:n.9+3044_9+3059delinsGAGCAGGATCAGAAGA
XM_006713789.2:c.492+31_492+46delinsGAGCAGGATCAGAAGA	XP_006713852.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
XM_011513237.1:c.492+31_492+46delinsGAGCAGGATCAGAAGA	XP_011511539.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
XM_011513238.1:c.492+31_492+46delinsGAGCAGGATCAGAAGA	XP_011511540.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
XM_006713789.3:c.492+31_492+46delinsGAGCAGGATCAGAAGA	XP_006713852.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
XM_017007324.1:c.492+31_492+46delinsGAGCAGGATCAGAAGA	XP_016862813.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
XM_017007325.1:c.492+31_492+46delinsGAGCAGGATCAGAAGA	XP_016862814.1:n.492+31_492+46delinsGAGCAGGATCAGAAGA
NM_000388.4:c.492+31_492+46delinsGAGCAGGATCAGAAGA MANE Select	NP_000379.3:n.492+31_492+46delinsGAGCAGGATCAGAAGA
NM_001178065.2:c.492+31_492+46delinsGAGCAGGATCAGAAGA	NP_001171536.2:n.492+31_492+46delinsGAGCAGGATCAGAAGA