Canonical Allele Identifier: CA2586972872

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284504_122284505insCCAG , CM000665.2:g.122284504_122284505insCCAG	GRCh38
NC_000003.11:g.122003351_122003352insCCAG , CM000665.1:g.122003351_122003352insCCAG	GRCh37
NC_000003.10:g.123486041_123486042insCCAG	NCBI36
NG_009058.1:g.105822_105823insCCAG
NG_009058.2:g.105837_105838insCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2319_2320insCCAG	ENSP00000418685.2:p.Cys774ProfsTer?
ENST00000498619.4:c.2580_2581insCCAG	ENSP00000420194.1:p.Cys861ProfsTer?
ENST00000638421.1:c.2550_2551insCCAG	ENSP00000492190.1:p.Cys851ProfsTer?
ENST00000639785.2:c.2550_2551insCCAG MANE Select	ENSP00000491584.2:p.Cys851ProfsTer?
ENST00000490131.5:c.2550_2551insCCAG	ENSP00000418685.1:p.Cys851ProfsTer?
ENST00000498619.2:c.2580_2581insCCAG	ENSP00000420194.1:p.Cys861ProfsTer?
NM_000388.3:c.2550_2551insCCAG	NP_000379.2:p.Cys851ProfsTer?
NM_001178065.1:c.2580_2581insCCAG	NP_001171536.1:p.Cys861ProfsTer?
XM_005247836.2:c.2550_2551insCCAG	XP_005247893.1:p.Cys851ProfsTer?
XM_005247837.2:c.2067_2068insCCAG	XP_005247894.1:p.Cys690ProfsTer?
XM_006713789.2:c.2550_2551insCCAG	XP_006713852.1:p.Cys851ProfsTer?
XM_011513237.1:c.2550_2551insCCAG	XP_011511539.1:p.Cys851ProfsTer?
XM_011513238.1:c.2550_2551insCCAG	XP_011511540.1:p.Cys851ProfsTer?
XM_011513239.1:c.1962_1963insCCAG	XP_011511541.1:p.Cys655ProfsTer?
XM_006713789.3:c.2550_2551insCCAG	XP_006713852.1:p.Cys851ProfsTer?
XM_017007324.1:c.2550_2551insCCAG	XP_016862813.1:p.Cys851ProfsTer?
XM_017007325.1:c.2550_2551insCCAG	XP_016862814.1:p.Cys851ProfsTer?
NM_000388.4:c.2550_2551insCCAG MANE Select	NP_000379.3:p.Cys851ProfsTer?
NM_001178065.2:c.2580_2581insCCAG	NP_001171536.2:p.Cys861ProfsTer?