Canonical Allele Identifier: CA2667224297

Gene: CASR

Linked Data

• gnomAD v4: 3-122257578-CCTTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257581_122257585del , CM000665.2:g.122257581_122257585del	GRCh38
NC_000003.11:g.121976428_121976432del , CM000665.1:g.121976428_121976432del	GRCh37
NC_000003.10:g.123459118_123459122del	NCBI36
NG_009058.1:g.78899_78903del
NG_009058.2:g.78914_78918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.492+194_492+198del	ENSP00000418685.2:n.492+194_492+198del
ENST00000498619.4:c.492+194_492+198del	ENSP00000420194.1:n.492+194_492+198del
ENST00000638296.1:n.605_609del
ENST00000638421.1:c.492+194_492+198del	ENSP00000492190.1:n.492+194_492+198del
ENST00000639785.2:c.492+194_492+198del MANE Select	ENSP00000491584.2:n.492+194_492+198del
ENST00000490131.5:c.492+194_492+198del	ENSP00000418685.1:n.492+194_492+198del
ENST00000490186.1:n.545_549del
ENST00000498619.2:c.492+194_492+198del	ENSP00000420194.1:n.492+194_492+198del
NM_000388.3:c.492+194_492+198del	NP_000379.2:n.492+194_492+198del
NM_001178065.1:c.492+194_492+198del	NP_001171536.1:n.492+194_492+198del
XM_005247836.2:c.492+194_492+198del	XP_005247893.1:n.492+194_492+198del
XM_005247837.2:c.9+3207_9+3211del	XP_005247894.1:n.9+3207_9+3211del
XM_006713789.2:c.492+194_492+198del	XP_006713852.1:n.492+194_492+198del
XM_011513237.1:c.492+194_492+198del	XP_011511539.1:n.492+194_492+198del
XM_011513238.1:c.492+194_492+198del	XP_011511540.1:n.492+194_492+198del
XM_006713789.3:c.492+194_492+198del	XP_006713852.1:n.492+194_492+198del
XM_017007324.1:c.492+194_492+198del	XP_016862813.1:n.492+194_492+198del
XM_017007325.1:c.492+194_492+198del	XP_016862814.1:n.492+194_492+198del
NM_000388.4:c.492+194_492+198del MANE Select	NP_000379.3:n.492+194_492+198del
NM_001178065.2:c.492+194_492+198del	NP_001171536.2:n.492+194_492+198del