Canonical Allele Identifier: CA82610472

Gene: CASR

Linked Data

• dbSNP Id: rs34247226
• gnomAD v2: 3-121976471-CTG-C
• gnomAD v3: 3-122257624-CTG-C
• gnomAD v4: 3-122257624-CTG-C
• MyVariant Identifiers: chr3:g.121976472_121976473del (hg19) ; chr3:g.122257625_122257626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257628_122257629del , CM000665.2:g.122257628_122257629del	GRCh38
NC_000003.11:g.121976475_121976476del , CM000665.1:g.121976475_121976476del	GRCh37
NC_000003.10:g.123459165_123459166del	NCBI36
NG_009058.1:g.78946_78947del
NG_009058.2:g.78961_78962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.492+241_492+242del	ENSP00000418685.2:n.492+241_492+242del
ENST00000498619.4:c.492+241_492+242del	ENSP00000420194.1:n.492+241_492+242del
ENST00000638296.1:n.652_653del
ENST00000638421.1:c.492+241_492+242del	ENSP00000492190.1:n.492+241_492+242del
ENST00000639785.2:c.492+241_492+242del MANE Select	ENSP00000491584.2:n.492+241_492+242del
ENST00000490131.5:c.492+241_492+242del	ENSP00000418685.1:n.492+241_492+242del
ENST00000490186.1:n.592_593del
ENST00000498619.2:c.492+241_492+242del	ENSP00000420194.1:n.492+241_492+242del
NM_000388.3:c.492+241_492+242del	NP_000379.2:n.492+241_492+242del
NM_001178065.1:c.492+241_492+242del	NP_001171536.1:n.492+241_492+242del
XM_005247836.2:c.492+241_492+242del	XP_005247893.1:n.492+241_492+242del
XM_005247837.2:c.9+3254_9+3255del	XP_005247894.1:n.9+3254_9+3255del
XM_006713789.2:c.492+241_492+242del	XP_006713852.1:n.492+241_492+242del
XM_011513237.1:c.492+241_492+242del	XP_011511539.1:n.492+241_492+242del
XM_011513238.1:c.492+241_492+242del	XP_011511540.1:n.492+241_492+242del
XM_006713789.3:c.492+241_492+242del	XP_006713852.1:n.492+241_492+242del
XM_017007324.1:c.492+241_492+242del	XP_016862813.1:n.492+241_492+242del
XM_017007325.1:c.492+241_492+242del	XP_016862814.1:n.492+241_492+242del
NM_000388.4:c.492+241_492+242del MANE Select	NP_000379.3:n.492+241_492+242del
NM_001178065.2:c.492+241_492+242del	NP_001171536.2:n.492+241_492+242del