Canonical Allele Identifier: CA2586972868

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284235_122284237del , CM000665.2:g.122284235_122284237del	GRCh38
NC_000003.11:g.122003082_122003084del , CM000665.1:g.122003082_122003084del	GRCh37
NC_000003.10:g.123485772_123485774del	NCBI36
NG_009058.1:g.105553_105555del
NG_009058.2:g.105568_105570del

Transcript Alleles

HGVS	Amino-acid change
ENST00000490131.7:c.2050_2052del	ENSP00000418685.2:p.Ile684del
ENST00000498619.4:c.2311_2313del	ENSP00000420194.1:p.Ile771del
ENST00000638421.1:c.2281_2283del	ENSP00000492190.1:p.Ile761del
ENST00000639785.2:c.2281_2283del MANE Select	ENSP00000491584.2:p.Ile761del
ENST00000490131.5:c.2281_2283del	ENSP00000418685.1:p.Ile761del
ENST00000498619.2:c.2311_2313del	ENSP00000420194.1:p.Ile771del
NM_000388.3:c.2281_2283del	NP_000379.2:p.Ile761del
NM_001178065.1:c.2311_2313del	NP_001171536.1:p.Ile771del
XM_005247836.2:c.2281_2283del	XP_005247893.1:p.Ile761del
XM_005247837.2:c.1798_1800del	XP_005247894.1:p.Ile600del
XM_006713789.2:c.2281_2283del	XP_006713852.1:p.Ile761del
XM_011513237.1:c.2281_2283del	XP_011511539.1:p.Ile761del
XM_011513238.1:c.2281_2283del	XP_011511540.1:p.Ile761del
XM_011513239.1:c.1693_1695del	XP_011511541.1:p.Ile565del
XM_006713789.3:c.2281_2283del	XP_006713852.1:p.Ile761del
XM_017007324.1:c.2281_2283del	XP_016862813.1:p.Ile761del
XM_017007325.1:c.2281_2283del	XP_016862814.1:p.Ile761del
NM_000388.4:c.2281_2283del MANE Select	NP_000379.3:p.Ile761del
NM_001178065.2:c.2311_2313del	NP_001171536.2:p.Ile771del