Canonical Allele Identifier: CA2586972867

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284193_122284194delinsT , CM000665.2:g.122284193_122284194delinsT	GRCh38
NC_000003.11:g.122003040_122003041delinsT , CM000665.1:g.122003040_122003041delinsT	GRCh37
NC_000003.10:g.123485730_123485731delinsT	NCBI36
NG_009058.1:g.105511_105512delinsT
NG_009058.2:g.105526_105527delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2008_2009delinsT	ENSP00000418685.2:p.Pro670SerfsTer30
ENST00000498619.4:c.2269_2270delinsT	ENSP00000420194.1:p.Pro757SerfsTer30
ENST00000638421.1:c.2239_2240delinsT	ENSP00000492190.1:p.Pro747SerfsTer30
ENST00000639785.2:c.2239_2240delinsT MANE Select	ENSP00000491584.2:p.Pro747SerfsTer30
ENST00000490131.5:c.2239_2240delinsT	ENSP00000418685.1:p.Pro747SerfsTer30
ENST00000498619.2:c.2269_2270delinsT	ENSP00000420194.1:p.Pro757SerfsTer30
NM_000388.3:c.2239_2240delinsT	NP_000379.2:p.Pro747SerfsTer30
NM_001178065.1:c.2269_2270delinsT	NP_001171536.1:p.Pro757SerfsTer30
XM_005247836.2:c.2239_2240delinsT	XP_005247893.1:p.Pro747SerfsTer30
XM_005247837.2:c.1756_1757delinsT	XP_005247894.1:p.Pro586SerfsTer30
XM_006713789.2:c.2239_2240delinsT	XP_006713852.1:p.Pro747SerfsTer30
XM_011513237.1:c.2239_2240delinsT	XP_011511539.1:p.Pro747SerfsTer30
XM_011513238.1:c.2239_2240delinsT	XP_011511540.1:p.Pro747SerfsTer30
XM_011513239.1:c.1651_1652delinsT	XP_011511541.1:p.Pro551SerfsTer30
XM_006713789.3:c.2239_2240delinsT	XP_006713852.1:p.Pro747SerfsTer30
XM_017007324.1:c.2239_2240delinsT	XP_016862813.1:p.Pro747SerfsTer30
XM_017007325.1:c.2239_2240delinsT	XP_016862814.1:p.Pro747SerfsTer30
NM_000388.4:c.2239_2240delinsT MANE Select	NP_000379.3:p.Pro747SerfsTer30
NM_001178065.2:c.2269_2270delinsT	NP_001171536.2:p.Pro757SerfsTer30