Canonical Allele Identifier: CA2580616514

Gene: CASR

Linked Data

• ClinVar Variation Id: 1250476
• ClinVar RCV Id: RCV001652726
• dbSNP Id: rs2107631536

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261395_122261396del , CM000665.2:g.122261395_122261396del	GRCh38
NC_000003.11:g.121980242_121980243del , CM000665.1:g.121980242_121980243del	GRCh37
NC_000003.10:g.123462932_123462933del	NCBI36
NG_009058.1:g.82713_82714del
NG_009058.2:g.82728_82729del

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.493-133_493-132del	ENSP00000418685.2:n.493-133_493-132del
ENST00000498619.4:c.493-133_493-132del	ENSP00000420194.1:n.493-133_493-132del
ENST00000638421.1:c.493-133_493-132del	ENSP00000492190.1:n.493-133_493-132del
ENST00000639785.2:c.493-133_493-132del MANE Select	ENSP00000491584.2:n.493-133_493-132del
ENST00000490131.5:c.493-133_493-132del	ENSP00000418685.1:n.493-133_493-132del
ENST00000498619.2:c.493-133_493-132del	ENSP00000420194.1:n.493-133_493-132del
NM_000388.3:c.493-133_493-132del	NP_000379.2:n.493-133_493-132del
NM_001178065.1:c.493-133_493-132del	NP_001171536.1:n.493-133_493-132del
XM_005247836.2:c.493-133_493-132del	XP_005247893.1:n.493-133_493-132del
XM_005247837.2:c.10-133_10-132del	XP_005247894.1:n.10-133_10-132del
XM_006713789.2:c.493-133_493-132del	XP_006713852.1:n.493-133_493-132del
XM_011513237.1:c.493-133_493-132del	XP_011511539.1:n.493-133_493-132del
XM_011513238.1:c.493-133_493-132del	XP_011511540.1:n.493-133_493-132del
XM_011513239.1:c.-96-133_-96-132del	XP_011511541.1:n.-96-133_-96-132del
XM_006713789.3:c.493-133_493-132del	XP_006713852.1:n.493-133_493-132del
XM_017007324.1:c.493-133_493-132del	XP_016862813.1:n.493-133_493-132del
XM_017007325.1:c.493-133_493-132del	XP_016862814.1:n.493-133_493-132del
NM_000388.4:c.493-133_493-132del MANE Select	NP_000379.3:n.493-133_493-132del
NM_001178065.2:c.493-133_493-132del	NP_001171536.2:n.493-133_493-132del