Canonical Allele Identifier: CA2586972877

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284657_122284664del , CM000665.2:g.122284657_122284664del	GRCh38
NC_000003.11:g.122003504_122003511del , CM000665.1:g.122003504_122003511del	GRCh37
NC_000003.10:g.123486194_123486201del	NCBI36
NG_009058.1:g.105975_105982del
NG_009058.2:g.105990_105997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2472_2479del	ENSP00000418685.2:p.Ser824ArgfsTer?
ENST00000498619.4:c.2733_2740del	ENSP00000420194.1:p.Ser911ArgfsTer?
ENST00000638421.1:c.2703_2710del	ENSP00000492190.1:p.Ser901ArgfsTer?
ENST00000639785.2:c.2703_2710del MANE Select	ENSP00000491584.2:p.Ser901ArgfsTer?
ENST00000490131.5:c.2703_2710del	ENSP00000418685.1:p.Ser901ArgfsTer?
ENST00000498619.2:c.2733_2740del	ENSP00000420194.1:p.Ser911ArgfsTer?
NM_000388.3:c.2703_2710del	NP_000379.2:p.Ser901ArgfsTer?
NM_001178065.1:c.2733_2740del	NP_001171536.1:p.Ser911ArgfsTer?
XM_005247836.2:c.2703_2710del	XP_005247893.1:p.Ser901ArgfsTer?
XM_005247837.2:c.2220_2227del	XP_005247894.1:p.Ser740ArgfsTer?
XM_006713789.2:c.2703_2710del	XP_006713852.1:p.Ser901ArgfsTer?
XM_011513237.1:c.2703_2710del	XP_011511539.1:p.Ser901ArgfsTer?
XM_011513238.1:c.2703_2710del	XP_011511540.1:p.Ser901ArgfsTer?
XM_011513239.1:c.2115_2122del	XP_011511541.1:p.Ser705ArgfsTer?
XM_006713789.3:c.2703_2710del	XP_006713852.1:p.Ser901ArgfsTer?
XM_017007324.1:c.2703_2710del	XP_016862813.1:p.Ser901ArgfsTer?
XM_017007325.1:c.2703_2710del	XP_016862814.1:p.Ser901ArgfsTer?
NM_000388.4:c.2703_2710del MANE Select	NP_000379.3:p.Ser901ArgfsTer?
NM_001178065.2:c.2733_2740del	NP_001171536.2:p.Ser911ArgfsTer?