Canonical Allele Identifier: CA1397873043

Gene: CASR

Linked Data

• dbSNP Id: rs2074625967

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261768del , CM000665.2:g.122261768del	GRCh38
NC_000003.11:g.121980615del , CM000665.1:g.121980615del	GRCh37
NC_000003.10:g.123463305del	NCBI36
NG_009058.1:g.83086del
NG_009058.2:g.83101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.733del	ENSP00000418685.2:p.Gln245SerfsTer12
ENST00000498619.4:c.733del	ENSP00000420194.1:p.Gln245SerfsTer12
ENST00000638421.1:c.733del	ENSP00000492190.1:p.Gln245SerfsTer12
ENST00000639785.2:c.733del MANE Select	ENSP00000491584.2:p.Gln245SerfsTer12
ENST00000490131.5:c.733del	ENSP00000418685.1:p.Gln245SerfsTer12
ENST00000498619.2:c.733del	ENSP00000420194.1:p.Gln245SerfsTer12
NM_000388.3:c.733del	NP_000379.2:p.Gln245SerfsTer12
NM_001178065.1:c.733del	NP_001171536.1:p.Gln245SerfsTer12
XM_005247836.2:c.733del	XP_005247893.1:p.Gln245SerfsTer12
XM_005247837.2:c.250del	XP_005247894.1:p.Gln84SerfsTer12
XM_006713789.2:c.733del	XP_006713852.1:p.Gln245SerfsTer12
XM_011513237.1:c.733del	XP_011511539.1:p.Gln245SerfsTer12
XM_011513238.1:c.733del	XP_011511540.1:p.Gln245SerfsTer12
XM_011513239.1:c.145del	XP_011511541.1:p.Gln49SerfsTer12
XM_006713789.3:c.733del	XP_006713852.1:p.Gln245SerfsTer12
XM_017007324.1:c.733del	XP_016862813.1:p.Gln245SerfsTer12
XM_017007325.1:c.733del	XP_016862814.1:p.Gln245SerfsTer12
NM_000388.4:c.733del MANE Select	NP_000379.3:p.Gln245SerfsTer12
NM_001178065.2:c.733del	NP_001171536.2:p.Gln245SerfsTer12