Canonical Allele Identifier: CA2667224981

Gene: CASR

Linked Data

• gnomAD v4: 3-122285261-C-CGATT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285261_122285262insGATT , CM000665.2:g.122285261_122285262insGATT	GRCh38
NC_000003.11:g.122004108_122004109insGATT , CM000665.1:g.122004108_122004109insGATT	GRCh37
NC_000003.10:g.123486798_123486799insGATT	NCBI36
NG_009058.1:g.106579_106580insGATT
NG_009058.2:g.106594_106595insGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.*70_*71insGATT	ENSP00000418685.2:n.*70_*71insGATT
ENST00000498619.4:c.*70_*71insGATT	ENSP00000420194.1:n.*70_*71insGATT
ENST00000638421.1:c.*70_*71insGATT	ENSP00000492190.1:n.*70_*71insGATT
ENST00000639785.2:c.*70_*71insGATT MANE Select	ENSP00000491584.2:n.*70_*71insGATT
ENST00000490131.5:c.*70_*71insGATT	ENSP00000418685.1:n.*70_*71insGATT
ENST00000498619.2:c.*70_*71insGATT	ENSP00000420194.1:n.*70_*71insGATT
NM_000388.3:c.*70_*71insGATT	NP_000379.2:n.*70_*71insGATT
NM_001178065.1:c.*70_*71insGATT	NP_001171536.1:n.*70_*71insGATT
XM_005247836.2:c.*70_*71insGATT	XP_005247893.1:n.*70_*71insGATT
XM_005247837.2:c.*70_*71insGATT	XP_005247894.1:n.*70_*71insGATT
XM_006713789.2:c.*70_*71insGATT	XP_006713852.1:n.*70_*71insGATT
XM_011513237.1:c.*70_*71insGATT	XP_011511539.1:n.*70_*71insGATT
XM_011513238.1:c.*70_*71insGATT	XP_011511540.1:n.*70_*71insGATT
XM_011513239.1:c.*70_*71insGATT	XP_011511541.1:n.*70_*71insGATT
XM_006713789.3:c.*70_*71insGATT	XP_006713852.1:n.*70_*71insGATT
XM_017007324.1:c.*70_*71insGATT	XP_016862813.1:n.*70_*71insGATT
XM_017007325.1:c.*70_*71insGATT	XP_016862814.1:n.*70_*71insGATT
NM_000388.4:c.*70_*71insGATT MANE Select	NP_000379.3:n.*70_*71insGATT
NM_001178065.2:c.*70_*71insGATT	NP_001171536.2:n.*70_*71insGATT