Canonical Allele Identifier: CA82749217

Gene: CASR

Linked Data

• dbSNP Id: rs977089723
• gnomAD v2: 3-122003566-AC-A
• gnomAD v4: 3-122284719-AC-A
• MyVariant Identifiers: chr3:g.122003567del (hg19) ; chr3:g.122284720del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284722del , CM000665.2:g.122284722del	GRCh38
NC_000003.11:g.122003569del , CM000665.1:g.122003569del	GRCh37
NC_000003.10:g.123486259del	NCBI36
NG_009058.1:g.106040del
NG_009058.2:g.106055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2537del	ENSP00000418685.2:p.Pro846HisfsTer16
ENST00000498619.4:c.2798del	ENSP00000420194.1:p.Pro933HisfsTer16
ENST00000638421.1:c.2768del	ENSP00000492190.1:p.Pro923HisfsTer16
ENST00000639785.2:c.2768del MANE Select	ENSP00000491584.2:p.Pro923HisfsTer16
ENST00000490131.5:c.2768del	ENSP00000418685.1:p.Pro923HisfsTer16
ENST00000498619.2:c.2798del	ENSP00000420194.1:p.Pro933HisfsTer16
NM_000388.3:c.2768del	NP_000379.2:p.Pro923HisfsTer16
NM_001178065.1:c.2798del	NP_001171536.1:p.Pro933HisfsTer16
XM_005247836.2:c.2768del	XP_005247893.1:p.Pro923HisfsTer16
XM_005247837.2:c.2285del	XP_005247894.1:p.Pro762HisfsTer16
XM_006713789.2:c.2768del	XP_006713852.1:p.Pro923HisfsTer16
XM_011513237.1:c.2768del	XP_011511539.1:p.Pro923HisfsTer16
XM_011513238.1:c.2768del	XP_011511540.1:p.Pro923HisfsTer16
XM_011513239.1:c.2180del	XP_011511541.1:p.Pro727HisfsTer16
XM_006713789.3:c.2768del	XP_006713852.1:p.Pro923HisfsTer16
XM_017007324.1:c.2768del	XP_016862813.1:p.Pro923HisfsTer16
XM_017007325.1:c.2768del	XP_016862814.1:p.Pro923HisfsTer16
NM_000388.4:c.2768del MANE Select	NP_000379.3:p.Pro923HisfsTer16
NM_001178065.2:c.2798del	NP_001171536.2:p.Pro933HisfsTer16