Canonical Allele Identifier: CA2580616520

Gene: CASR

Linked Data

• ClinVar Variation Id: 2451439
• ClinVar RCV Id: RCV003779515 ; RCV004245048
• gnomAD v4: 3-122284745-AAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284755_122284757del , CM000665.2:g.122284755_122284757del	GRCh38
NC_000003.11:g.122003602_122003604del , CM000665.1:g.122003602_122003604del	GRCh37
NC_000003.10:g.123486292_123486294del	NCBI36
NG_009058.1:g.106073_106075del
NG_009058.2:g.106088_106090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2570_2572del	ENSP00000418685.2:p.Gln857del
ENST00000498619.4:c.2831_2833del	ENSP00000420194.1:p.Gln944del
ENST00000638421.1:c.2801_2803del	ENSP00000492190.1:p.Gln934del
ENST00000639785.2:c.2801_2803del MANE Select	ENSP00000491584.2:p.Gln934del
ENST00000490131.5:c.2801_2803del	ENSP00000418685.1:p.Gln934del
ENST00000498619.2:c.2831_2833del	ENSP00000420194.1:p.Gln944del
NM_000388.3:c.2801_2803del	NP_000379.2:p.Gln934del
NM_001178065.1:c.2831_2833del	NP_001171536.1:p.Gln944del
XM_005247836.2:c.2801_2803del	XP_005247893.1:p.Gln934del
XM_005247837.2:c.2318_2320del	XP_005247894.1:p.Gln773del
XM_006713789.2:c.2801_2803del	XP_006713852.1:p.Gln934del
XM_011513237.1:c.2801_2803del	XP_011511539.1:p.Gln934del
XM_011513238.1:c.2801_2803del	XP_011511540.1:p.Gln934del
XM_011513239.1:c.2213_2215del	XP_011511541.1:p.Gln738del
XM_006713789.3:c.2801_2803del	XP_006713852.1:p.Gln934del
XM_017007324.1:c.2801_2803del	XP_016862813.1:p.Gln934del
XM_017007325.1:c.2801_2803del	XP_016862814.1:p.Gln934del
NM_000388.4:c.2801_2803del MANE Select	NP_000379.3:p.Gln934del
NM_001178065.2:c.2831_2833del	NP_001171536.2:p.Gln944del