Canonical Allele Identifier: CA545959092

Gene: CASR

Linked Data

• dbSNP Id: rs200028332
• gnomAD v2: 3-121976532-AT-A
• gnomAD v3: 3-122257685-AT-A
• gnomAD v4: 3-122257685-AT-A
• MyVariant Identifiers: chr3:g.121976533del (hg19) ; chr3:g.122257686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257693del , CM000665.2:g.122257693del	GRCh38
NC_000003.11:g.121976540del , CM000665.1:g.121976540del	GRCh37
NC_000003.10:g.123459230del	NCBI36
NG_009058.1:g.79011del
NG_009058.2:g.79026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.492+306del	ENSP00000418685.2:n.492+306del
ENST00000498619.4:c.492+306del	ENSP00000420194.1:n.492+306del
ENST00000638421.1:c.492+306del	ENSP00000492190.1:n.492+306del
ENST00000639785.2:c.492+306del MANE Select	ENSP00000491584.2:n.492+306del
ENST00000490131.5:c.492+306del	ENSP00000418685.1:n.492+306del
ENST00000498619.2:c.492+306del	ENSP00000420194.1:n.492+306del
NM_000388.3:c.492+306del	NP_000379.2:n.492+306del
NM_001178065.1:c.492+306del	NP_001171536.1:n.492+306del
XM_005247836.2:c.492+306del	XP_005247893.1:n.492+306del
XM_005247837.2:c.9+3319del	XP_005247894.1:n.9+3319del
XM_006713789.2:c.492+306del	XP_006713852.1:n.492+306del
XM_011513237.1:c.492+306del	XP_011511539.1:n.492+306del
XM_011513238.1:c.492+306del	XP_011511540.1:n.492+306del
XM_006713789.3:c.492+306del	XP_006713852.1:n.492+306del
XM_017007324.1:c.492+306del	XP_016862813.1:n.492+306del
XM_017007325.1:c.492+306del	XP_016862814.1:n.492+306del
NM_000388.4:c.492+306del MANE Select	NP_000379.3:n.492+306del
NM_001178065.2:c.492+306del	NP_001171536.2:n.492+306del