Canonical Allele Identifier: CA2573136446

Gene: CASR

Linked Data

• ClinVar Variation Id: 1453750
• ClinVar RCV Id: RCV001941522
• dbSNP Id: rs2107627671

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257252_122257253del , CM000665.2:g.122257252_122257253del	GRCh38
NC_000003.11:g.121976099_121976100del , CM000665.1:g.121976099_121976100del	GRCh37
NC_000003.10:g.123458789_123458790del	NCBI36
NG_009058.1:g.78570_78571del
NG_009058.2:g.78585_78586del

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.357_358del	ENSP00000418685.2:p.Lys119AsnfsTer2
ENST00000498619.4:c.357_358del	ENSP00000420194.1:p.Lys119AsnfsTer2
ENST00000638296.1:n.276_277del
ENST00000638421.1:c.357_358del	ENSP00000492190.1:p.Lys119AsnfsTer2
ENST00000639785.2:c.357_358del MANE Select	ENSP00000491584.2:p.Lys119AsnfsTer2
ENST00000490131.5:c.357_358del	ENSP00000418685.1:p.Lys119AsnfsTer2
ENST00000490186.1:n.216_217del
ENST00000498619.2:c.357_358del	ENSP00000420194.1:p.Lys119AsnfsTer2
NM_000388.3:c.357_358del	NP_000379.2:p.Lys119AsnfsTer2
NM_001178065.1:c.357_358del	NP_001171536.1:p.Lys119AsnfsTer2
XM_005247836.2:c.357_358del	XP_005247893.1:p.Lys119AsnfsTer2
XM_005247837.2:c.9+2878_9+2879del	XP_005247894.1:n.9+2878_9+2879del
XM_006713789.2:c.357_358del	XP_006713852.1:p.Lys119AsnfsTer2
XM_011513237.1:c.357_358del	XP_011511539.1:p.Lys119AsnfsTer2
XM_011513238.1:c.357_358del	XP_011511540.1:p.Lys119AsnfsTer2
XM_006713789.3:c.357_358del	XP_006713852.1:p.Lys119AsnfsTer2
XM_017007324.1:c.357_358del	XP_016862813.1:p.Lys119AsnfsTer2
XM_017007325.1:c.357_358del	XP_016862814.1:p.Lys119AsnfsTer2
NM_000388.4:c.357_358del MANE Select	NP_000379.3:p.Lys119AsnfsTer2
NM_001178065.2:c.357_358del	NP_001171536.2:p.Lys119AsnfsTer2