Canonical Allele Identifier: CA2695199266

Gene: CASR

Linked Data

• ClinVar Variation Id: 2634311
• ClinVar RCV Id: RCV004554913

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284724_122284731del , CM000665.2:g.122284724_122284731del	GRCh38
NC_000003.11:g.122003571_122003578del , CM000665.1:g.122003571_122003578del	GRCh37
NC_000003.10:g.123486261_123486268del	NCBI36
NG_009058.1:g.106042_106049del
NG_009058.2:g.106057_106064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2539_2546del	ENSP00000418685.2:p.Phe847AlafsTer?
ENST00000498619.4:c.2800_2807del	ENSP00000420194.1:p.Phe934AlafsTer?
ENST00000638421.1:c.2770_2777del	ENSP00000492190.1:p.Phe924AlafsTer?
ENST00000639785.2:c.2770_2777del MANE Select	ENSP00000491584.2:p.Phe924AlafsTer?
ENST00000490131.5:c.2770_2777del	ENSP00000418685.1:p.Phe924AlafsTer?
ENST00000498619.2:c.2800_2807del	ENSP00000420194.1:p.Phe934AlafsTer?
NM_000388.3:c.2770_2777del	NP_000379.2:p.Phe924AlafsTer?
NM_001178065.1:c.2800_2807del	NP_001171536.1:p.Phe934AlafsTer?
XM_005247836.2:c.2770_2777del	XP_005247893.1:p.Phe924AlafsTer?
XM_005247837.2:c.2287_2294del	XP_005247894.1:p.Phe763AlafsTer?
XM_006713789.2:c.2770_2777del	XP_006713852.1:p.Phe924AlafsTer?
XM_011513237.1:c.2770_2777del	XP_011511539.1:p.Phe924AlafsTer?
XM_011513238.1:c.2770_2777del	XP_011511540.1:p.Phe924AlafsTer?
XM_011513239.1:c.2182_2189del	XP_011511541.1:p.Phe728AlafsTer?
XM_006713789.3:c.2770_2777del	XP_006713852.1:p.Phe924AlafsTer?
XM_017007324.1:c.2770_2777del	XP_016862813.1:p.Phe924AlafsTer?
XM_017007325.1:c.2770_2777del	XP_016862814.1:p.Phe924AlafsTer?
NM_000388.4:c.2770_2777del MANE Select	NP_000379.3:p.Phe924AlafsTer?
NM_001178065.2:c.2800_2807del	NP_001171536.2:p.Phe934AlafsTer?