Canonical Allele Identifier: CA82746083

Gene: CASR

Linked Data

• dbSNP Id: rs1034006357
• gnomAD v4: 3-122276144-AAG-A
• MyVariant Identifiers: chr3:g.121994992_121994993del (hg19) ; chr3:g.122276145_122276146del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122276147_122276148del , CM000665.2:g.122276147_122276148del	GRCh38
NC_000003.11:g.121994994_121994995del , CM000665.1:g.121994994_121994995del	GRCh37
NC_000003.10:g.123477684_123477685del	NCBI36
NG_009058.1:g.97465_97466del
NG_009058.2:g.97480_97481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1378-5966_1378-5965del	ENSP00000418685.2:n.1378-5966_1378-5965del
ENST00000498619.4:c.1608+105_1608+106del	ENSP00000420194.1:n.1608+105_1608+106del
ENST00000638421.1:c.1608+105_1608+106del	ENSP00000492190.1:n.1608+105_1608+106del
ENST00000639785.2:c.1608+105_1608+106del MANE Select	ENSP00000491584.2:n.1608+105_1608+106del
ENST00000490131.5:c.1608+105_1608+106del	ENSP00000418685.1:n.1608+105_1608+106del
ENST00000498619.2:c.1608+105_1608+106del	ENSP00000420194.1:n.1608+105_1608+106del
NM_000388.3:c.1608+105_1608+106del	NP_000379.2:n.1608+105_1608+106del
NM_001178065.1:c.1608+105_1608+106del	NP_001171536.1:n.1608+105_1608+106del
XM_005247836.2:c.1608+105_1608+106del	XP_005247893.1:n.1608+105_1608+106del
XM_005247837.2:c.1125+105_1125+106del	XP_005247894.1:n.1125+105_1125+106del
XM_006713789.2:c.1608+105_1608+106del	XP_006713852.1:n.1608+105_1608+106del
XM_011513237.1:c.1608+105_1608+106del	XP_011511539.1:n.1608+105_1608+106del
XM_011513238.1:c.1608+105_1608+106del	XP_011511540.1:n.1608+105_1608+106del
XM_011513239.1:c.1020+105_1020+106del	XP_011511541.1:n.1020+105_1020+106del
XM_006713789.3:c.1608+105_1608+106del	XP_006713852.1:n.1608+105_1608+106del
XM_017007324.1:c.1608+105_1608+106del	XP_016862813.1:n.1608+105_1608+106del
XM_017007325.1:c.1608+105_1608+106del	XP_016862814.1:n.1608+105_1608+106del
NM_000388.4:c.1608+105_1608+106del MANE Select	NP_000379.3:n.1608+105_1608+106del
NM_001178065.2:c.1608+105_1608+106del	NP_001171536.2:n.1608+105_1608+106del