Canonical Allele Identifier: CA2569614

Gene: CASR

Linked Data

• ClinVar Variation Id: 2927494
• ClinVar RCV Id: RCV003784124
• dbSNP Id: rs754075314
• ExAC: 3:121981147 TAGC / T
• gnomAD v2: 3-121981147-TAGC-T
• gnomAD v4: 3-122262300-TAGC-T
• MyVariant Identifiers: chr3:g.121981148_121981150del (hg19) ; chr3:g.122262301_122262303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122262303_122262305del , CM000665.2:g.122262303_122262305del	GRCh38
NC_000003.11:g.121981150_121981152del , CM000665.1:g.121981150_121981152del	GRCh37
NC_000003.10:g.123463840_123463842del	NCBI36
NG_009058.1:g.83621_83623del
NG_009058.2:g.83636_83638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1268_1270del	ENSP00000418685.2:p.Ala423del
ENST00000498619.4:c.1268_1270del	ENSP00000420194.1:p.Ala423del
ENST00000638421.1:c.1268_1270del	ENSP00000492190.1:p.Ala423del
ENST00000639785.2:c.1268_1270del MANE Select	ENSP00000491584.2:p.Ala423del
ENST00000490131.5:c.1268_1270del	ENSP00000418685.1:p.Ala423del
ENST00000498619.2:c.1268_1270del	ENSP00000420194.1:p.Ala423del
NM_000388.3:c.1268_1270del	NP_000379.2:p.Ala423del
NM_001178065.1:c.1268_1270del	NP_001171536.1:p.Ala423del
XM_005247836.2:c.1268_1270del	XP_005247893.1:p.Ala423del
XM_005247837.2:c.785_787del	XP_005247894.1:p.Ala262del
XM_006713789.2:c.1268_1270del	XP_006713852.1:p.Ala423del
XM_011513237.1:c.1268_1270del	XP_011511539.1:p.Ala423del
XM_011513238.1:c.1268_1270del	XP_011511540.1:p.Ala423del
XM_011513239.1:c.680_682del	XP_011511541.1:p.Ala227del
XM_006713789.3:c.1268_1270del	XP_006713852.1:p.Ala423del
XM_017007324.1:c.1268_1270del	XP_016862813.1:p.Ala423del
XM_017007325.1:c.1268_1270del	XP_016862814.1:p.Ala423del
NM_000388.4:c.1268_1270del MANE Select	NP_000379.3:p.Ala423del
NM_001178065.2:c.1268_1270del	NP_001171536.2:p.Ala423del