Canonical Allele Identifier: CA1397883191

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122276045_122276046delinsAG , CM000665.2:g.122276045_122276046delinsAG	GRCh38
NC_000003.11:g.121994892_121994893delinsAG , CM000665.1:g.121994892_121994893delinsAG	GRCh37
NC_000003.10:g.123477582_123477583delinsAG	NCBI36
NG_009058.1:g.97363_97364delinsAG
NG_009058.2:g.97378_97379delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1378-6068_1378-6067delinsAG	ENSP00000418685.2:n.1378-6068_1378-6067delinsAG
ENST00000498619.4:c.1608+3_1608+4delinsAG	ENSP00000420194.1:n.1608+3_1608+4delinsAG
ENST00000638421.1:c.1608+3_1608+4delinsAG	ENSP00000492190.1:n.1608+3_1608+4delinsAG
ENST00000639785.2:c.1608+3_1608+4delinsAG MANE Select	ENSP00000491584.2:n.1608+3_1608+4delinsAG
ENST00000490131.5:c.1608+3_1608+4delinsAG	ENSP00000418685.1:n.1608+3_1608+4delinsAG
ENST00000498619.2:c.1608+3_1608+4delinsAG	ENSP00000420194.1:n.1608+3_1608+4delinsAG
NM_000388.3:c.1608+3_1608+4delinsAG	NP_000379.2:n.1608+3_1608+4delinsAG
NM_001178065.1:c.1608+3_1608+4delinsAG	NP_001171536.1:n.1608+3_1608+4delinsAG
XM_005247836.2:c.1608+3_1608+4delinsAG	XP_005247893.1:n.1608+3_1608+4delinsAG
XM_005247837.2:c.1125+3_1125+4delinsAG	XP_005247894.1:n.1125+3_1125+4delinsAG
XM_006713789.2:c.1608+3_1608+4delinsAG	XP_006713852.1:n.1608+3_1608+4delinsAG
XM_011513237.1:c.1608+3_1608+4delinsAG	XP_011511539.1:n.1608+3_1608+4delinsAG
XM_011513238.1:c.1608+3_1608+4delinsAG	XP_011511540.1:n.1608+3_1608+4delinsAG
XM_011513239.1:c.1020+3_1020+4delinsAG	XP_011511541.1:n.1020+3_1020+4delinsAG
XM_006713789.3:c.1608+3_1608+4delinsAG	XP_006713852.1:n.1608+3_1608+4delinsAG
XM_017007324.1:c.1608+3_1608+4delinsAG	XP_016862813.1:n.1608+3_1608+4delinsAG
XM_017007325.1:c.1608+3_1608+4delinsAG	XP_016862814.1:n.1608+3_1608+4delinsAG
NM_000388.4:c.1608+3_1608+4delinsAG MANE Select	NP_000379.3:n.1608+3_1608+4delinsAG
NM_001178065.2:c.1608+3_1608+4delinsAG	NP_001171536.2:n.1608+3_1608+4delinsAG