Canonical Allele Identifier: CA2580616516

Gene: CASR

Linked Data

• ClinVar Variation Id: 1157608
• ClinVar RCV Id: RCV001500745
• dbSNP Id: rs2107625112

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122254383_122254384del , CM000665.2:g.122254383_122254384del	GRCh38
NC_000003.11:g.121973230_121973231del , CM000665.1:g.121973230_121973231del	GRCh37
NC_000003.10:g.123455920_123455921del	NCBI36
NG_009058.1:g.75701_75702del
NG_009058.2:g.75716_75717del

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.185+9_185+10del	ENSP00000418685.2:n.185+9_185+10del
ENST00000498619.4:c.185+9_185+10del	ENSP00000420194.1:n.185+9_185+10del
ENST00000638296.1:n.104+9_104+10del
ENST00000638421.1:c.185+9_185+10del	ENSP00000492190.1:n.185+9_185+10del
ENST00000639785.2:c.185+9_185+10del MANE Select	ENSP00000491584.2:n.185+9_185+10del
ENST00000490131.5:c.185+9_185+10del	ENSP00000418685.1:n.185+9_185+10del
ENST00000490186.1:n.44+9_44+10del
ENST00000498619.2:c.185+9_185+10del	ENSP00000420194.1:n.185+9_185+10del
NM_000388.3:c.185+9_185+10del	NP_000379.2:n.185+9_185+10del
NM_001178065.1:c.185+9_185+10del	NP_001171536.1:n.185+9_185+10del
XM_005247836.2:c.185+9_185+10del	XP_005247893.1:n.185+9_185+10del
XM_005247837.2:c.9+9_9+10del	XP_005247894.1:n.9+9_9+10del
XM_006713789.2:c.185+9_185+10del	XP_006713852.1:n.185+9_185+10del
XM_011513237.1:c.185+9_185+10del	XP_011511539.1:n.185+9_185+10del
XM_011513238.1:c.185+9_185+10del	XP_011511540.1:n.185+9_185+10del
XM_006713789.3:c.185+9_185+10del	XP_006713852.1:n.185+9_185+10del
XM_017007324.1:c.185+9_185+10del	XP_016862813.1:n.185+9_185+10del
XM_017007325.1:c.185+9_185+10del	XP_016862814.1:n.185+9_185+10del
NM_000388.4:c.185+9_185+10del MANE Select	NP_000379.3:n.185+9_185+10del
NM_001178065.2:c.185+9_185+10del	NP_001171536.2:n.185+9_185+10del