Canonical Allele Identifier: CA2667223657

Gene: CASR

Linked Data

• gnomAD v4: 3-122276088-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122276091del , CM000665.2:g.122276091del	GRCh38
NC_000003.11:g.121994938del , CM000665.1:g.121994938del	GRCh37
NC_000003.10:g.123477628del	NCBI36
NG_009058.1:g.97409del
NG_009058.2:g.97424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1378-6022del	ENSP00000418685.2:n.1378-6022del
ENST00000498619.4:c.1608+49del	ENSP00000420194.1:n.1608+49del
ENST00000638421.1:c.1608+49del	ENSP00000492190.1:n.1608+49del
ENST00000639785.2:c.1608+49del MANE Select	ENSP00000491584.2:n.1608+49del
ENST00000490131.5:c.1608+49del	ENSP00000418685.1:n.1608+49del
ENST00000498619.2:c.1608+49del	ENSP00000420194.1:n.1608+49del
NM_000388.3:c.1608+49del	NP_000379.2:n.1608+49del
NM_001178065.1:c.1608+49del	NP_001171536.1:n.1608+49del
XM_005247836.2:c.1608+49del	XP_005247893.1:n.1608+49del
XM_005247837.2:c.1125+49del	XP_005247894.1:n.1125+49del
XM_006713789.2:c.1608+49del	XP_006713852.1:n.1608+49del
XM_011513237.1:c.1608+49del	XP_011511539.1:n.1608+49del
XM_011513238.1:c.1608+49del	XP_011511540.1:n.1608+49del
XM_011513239.1:c.1020+49del	XP_011511541.1:n.1020+49del
XM_006713789.3:c.1608+49del	XP_006713852.1:n.1608+49del
XM_017007324.1:c.1608+49del	XP_016862813.1:n.1608+49del
XM_017007325.1:c.1608+49del	XP_016862814.1:n.1608+49del
NM_000388.4:c.1608+49del MANE Select	NP_000379.3:n.1608+49del
NM_001178065.2:c.1608+49del	NP_001171536.2:n.1608+49del