Canonical Allele Identifier: CA435424761

Gene: CASR

Linked Data

• ClinVar Variation Id: 2939567
• ClinVar RCV Id: RCV003794733
• dbSNP Id: rs2074934463
• gnomAD v3: 3-122284197-CG-C
• gnomAD v4: 3-122284197-CG-C
• COSMIC: COSM1418248
• MyVariant Identifiers: chr3:g.122003045del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284198del , CM000665.2:g.122284198del	GRCh38
NC_000003.11:g.122003045del , CM000665.1:g.122003045del	GRCh37
NC_000003.10:g.123485735del	NCBI36
NG_009058.2:g.105531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2013del	ENSP00000418685.2:p.Ser672GlnfsTer28
ENST00000498619.4:c.2274del	ENSP00000420194.1:p.Ser759GlnfsTer28
ENST00000638421.1:c.2244del	ENSP00000492190.1:p.Ser749GlnfsTer28
ENST00000639785.2:c.2244del MANE Select	ENSP00000491584.2:p.Ser749GlnfsTer28
ENST00000490131.5:c.2244del	ENSP00000418685.1:p.Ser749GlnfsTer28
ENST00000498619.2:c.2274del	ENSP00000420194.1:p.Ser759GlnfsTer28
XM_005247836.2:c.2244del	XP_005247893.1:p.Ser749GlnfsTer28
XM_005247837.2:c.1761del	XP_005247894.1:p.Ser588GlnfsTer28
XM_006713789.2:c.2244del	XP_006713852.1:p.Ser749GlnfsTer28
XM_011513237.1:c.2244del	XP_011511539.1:p.Ser749GlnfsTer28
XM_011513238.1:c.2244del	XP_011511540.1:p.Ser749GlnfsTer28
XM_011513239.1:c.1656del	XP_011511541.1:p.Ser553GlnfsTer28
XM_006713789.3:c.2244del	XP_006713852.1:p.Ser749GlnfsTer28
XM_017007324.1:c.2244del	XP_016862813.1:p.Ser749GlnfsTer28
XM_017007325.1:c.2244del	XP_016862814.1:p.Ser749GlnfsTer28
NM_000388.4:c.2244del MANE Select	NP_000379.3:p.Ser749GlnfsTer28
NM_001178065.2:c.2274del	NP_001171536.2:p.Ser759GlnfsTer28