Canonical Allele Identifier: CA2586972838

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257260_122257263dup , CM000665.2:g.122257260_122257263dup	GRCh38
NC_000003.11:g.121976107_121976110dup , CM000665.1:g.121976107_121976110dup	GRCh37
NC_000003.10:g.123458797_123458800dup	NCBI36
NG_009058.1:g.78578_78581dup
NG_009058.2:g.78593_78596dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.365_368dup	ENSP00000418685.2:p.Leu123PhefsTer5
ENST00000498619.4:c.365_368dup	ENSP00000420194.1:p.Leu123PhefsTer5
ENST00000638296.1:n.284_287dup
ENST00000638421.1:c.365_368dup	ENSP00000492190.1:p.Leu123PhefsTer5
ENST00000639785.2:c.365_368dup MANE Select	ENSP00000491584.2:p.Leu123PhefsTer5
ENST00000490131.5:c.365_368dup	ENSP00000418685.1:p.Leu123PhefsTer5
ENST00000490186.1:n.224_227dup
ENST00000498619.2:c.365_368dup	ENSP00000420194.1:p.Leu123PhefsTer5
NM_000388.3:c.365_368dup	NP_000379.2:p.Leu123PhefsTer5
NM_001178065.1:c.365_368dup	NP_001171536.1:p.Leu123PhefsTer5
XM_005247836.2:c.365_368dup	XP_005247893.1:p.Leu123PhefsTer5
XM_005247837.2:c.9+2886_9+2889dup	XP_005247894.1:n.9+2886_9+2889dup
XM_006713789.2:c.365_368dup	XP_006713852.1:p.Leu123PhefsTer5
XM_011513237.1:c.365_368dup	XP_011511539.1:p.Leu123PhefsTer5
XM_011513238.1:c.365_368dup	XP_011511540.1:p.Leu123PhefsTer5
XM_006713789.3:c.365_368dup	XP_006713852.1:p.Leu123PhefsTer5
XM_017007324.1:c.365_368dup	XP_016862813.1:p.Leu123PhefsTer5
XM_017007325.1:c.365_368dup	XP_016862814.1:p.Leu123PhefsTer5
NM_000388.4:c.365_368dup MANE Select	NP_000379.3:p.Leu123PhefsTer5
NM_001178065.2:c.365_368dup	NP_001171536.2:p.Leu123PhefsTer5