Canonical Allele Identifier: CA2569951

Gene: CASR

Linked Data

• ClinVar Variation Id: 3054948
• ClinVar RCV Id: RCV004554960
• dbSNP Id: rs774126172
• ExAC: 3:122004044 AAGG / A
• gnomAD v2: 3-122004044-AAGG-A
• gnomAD v3: 3-122285197-AAGG-A
• gnomAD v4: 3-122285197-AAGG-A
• MyVariant Identifiers: chr3:g.122004045_122004047del (hg19) ; chr3:g.122285198_122285200del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285200_122285202del , CM000665.2:g.122285200_122285202del	GRCh38
NC_000003.11:g.122004047_122004049del , CM000665.1:g.122004047_122004049del	GRCh37
NC_000003.10:g.123486737_123486739del	NCBI36
NG_009058.1:g.106518_106520del
NG_009058.2:g.106533_106535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.*9_*11del	ENSP00000418685.2:n.*9_*11del
ENST00000498619.4:c.*9_*11del	ENSP00000420194.1:n.*9_*11del
ENST00000638421.1:c.*9_*11del	ENSP00000492190.1:n.*9_*11del
ENST00000639785.2:c.*9_*11del MANE Select	ENSP00000491584.2:n.*9_*11del
ENST00000490131.5:c.*9_*11del	ENSP00000418685.1:n.*9_*11del
ENST00000498619.2:c.*9_*11del	ENSP00000420194.1:n.*9_*11del
NM_000388.3:c.*9_*11del	NP_000379.2:n.*9_*11del
NM_001178065.1:c.*9_*11del	NP_001171536.1:n.*9_*11del
XM_005247836.2:c.*9_*11del	XP_005247893.1:n.*9_*11del
XM_005247837.2:c.*9_*11del	XP_005247894.1:n.*9_*11del
XM_006713789.2:c.*9_*11del	XP_006713852.1:n.*9_*11del
XM_011513237.1:c.*9_*11del	XP_011511539.1:n.*9_*11del
XM_011513238.1:c.*9_*11del	XP_011511540.1:n.*9_*11del
XM_011513239.1:c.*9_*11del	XP_011511541.1:n.*9_*11del
XM_006713789.3:c.*9_*11del	XP_006713852.1:n.*9_*11del
XM_017007324.1:c.*9_*11del	XP_016862813.1:n.*9_*11del
XM_017007325.1:c.*9_*11del	XP_016862814.1:n.*9_*11del
NM_000388.4:c.*9_*11del MANE Select	NP_000379.3:n.*9_*11del
NM_001178065.2:c.*9_*11del	NP_001171536.2:n.*9_*11del