Canonical Allele Identifier: CA2703904610

Gene: CASR

Linked Data

• dbSNP Id: rs2107651393

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284822_122284823del , CM000665.2:g.122284822_122284823del	GRCh38
NC_000003.11:g.122003669_122003670del , CM000665.1:g.122003669_122003670del	GRCh37
NC_000003.10:g.123486359_123486360del	NCBI36
NG_009058.1:g.106140_106141del
NG_009058.2:g.106155_106156del

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.2637_2638del	ENSP00000418685.2:p.Gln880AlafsTer23
ENST00000498619.4:c.2898_2899del	ENSP00000420194.1:p.Gln967AlafsTer23
ENST00000638421.1:c.2868_2869del	ENSP00000492190.1:p.Gln957AlafsTer23
ENST00000639785.2:c.2868_2869del MANE Select	ENSP00000491584.2:p.Gln957AlafsTer23
ENST00000490131.5:c.2868_2869del	ENSP00000418685.1:p.Gln957AlafsTer23
ENST00000498619.2:c.2898_2899del	ENSP00000420194.1:p.Gln967AlafsTer23
NM_000388.3:c.2868_2869del	NP_000379.2:p.Gln957AlafsTer23
NM_001178065.1:c.2898_2899del	NP_001171536.1:p.Gln967AlafsTer23
XM_005247836.2:c.2868_2869del	XP_005247893.1:p.Gln957AlafsTer23
XM_005247837.2:c.2385_2386del	XP_005247894.1:p.Gln796AlafsTer23
XM_006713789.2:c.2868_2869del	XP_006713852.1:p.Gln957AlafsTer23
XM_011513237.1:c.2868_2869del	XP_011511539.1:p.Gln957AlafsTer23
XM_011513238.1:c.2868_2869del	XP_011511540.1:p.Gln957AlafsTer23
XM_011513239.1:c.2280_2281del	XP_011511541.1:p.Gln761AlafsTer23
XM_006713789.3:c.2868_2869del	XP_006713852.1:p.Gln957AlafsTer23
XM_017007324.1:c.2868_2869del	XP_016862813.1:p.Gln957AlafsTer23
XM_017007325.1:c.2868_2869del	XP_016862814.1:p.Gln957AlafsTer23
NM_000388.4:c.2868_2869del MANE Select	NP_000379.3:p.Gln957AlafsTer23
NM_001178065.2:c.2898_2899del	NP_001171536.2:p.Gln967AlafsTer23