Canonical Allele Identifier: CA2667225261

Gene: CASR

Linked Data

• gnomAD v4: 3-122262461-G-GCAGCCCAACTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122262461_122262462insCAGCCCAACTCT , CM000665.2:g.122262461_122262462insCAGCCCAACTCT	GRCh38
NC_000003.11:g.121981308_121981309insCAGCCCAACTCT , CM000665.1:g.121981308_121981309insCAGCCCAACTCT	GRCh37
NC_000003.10:g.123463998_123463999insCAGCCCAACTCT	NCBI36
NG_009058.1:g.83779_83780insCAGCCCAACTCT
NG_009058.2:g.83794_83795insCAGCCCAACTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1377+49_1377+50insCAGCCCAACTCT	ENSP00000418685.2:n.1377+49_1377+50insCAGCCCAACTCT
ENST00000498619.4:c.1377+49_1377+50insCAGCCCAACTCT	ENSP00000420194.1:n.1377+49_1377+50insCAGCCCAACTCT
ENST00000638421.1:c.1377+49_1377+50insCAGCCCAACTCT	ENSP00000492190.1:n.1377+49_1377+50insCAGCCCAACTCT
ENST00000639785.2:c.1377+49_1377+50insCAGCCCAACTCT MANE Select	ENSP00000491584.2:n.1377+49_1377+50insCAGCCCAACTCT
ENST00000490131.5:c.1377+49_1377+50insCAGCCCAACTCT	ENSP00000418685.1:n.1377+49_1377+50insCAGCCCAACTCT
ENST00000498619.2:c.1377+49_1377+50insCAGCCCAACTCT	ENSP00000420194.1:n.1377+49_1377+50insCAGCCCAACTCT
NM_000388.3:c.1377+49_1377+50insCAGCCCAACTCT	NP_000379.2:n.1377+49_1377+50insCAGCCCAACTCT
NM_001178065.1:c.1377+49_1377+50insCAGCCCAACTCT	NP_001171536.1:n.1377+49_1377+50insCAGCCCAACTCT
XM_005247836.2:c.1377+49_1377+50insCAGCCCAACTCT	XP_005247893.1:n.1377+49_1377+50insCAGCCCAACTCT
XM_005247837.2:c.894+49_894+50insCAGCCCAACTCT	XP_005247894.1:n.894+49_894+50insCAGCCCAACTCT
XM_006713789.2:c.1377+49_1377+50insCAGCCCAACTCT	XP_006713852.1:n.1377+49_1377+50insCAGCCCAACTCT
XM_011513237.1:c.1377+49_1377+50insCAGCCCAACTCT	XP_011511539.1:n.1377+49_1377+50insCAGCCCAACTCT
XM_011513238.1:c.1377+49_1377+50insCAGCCCAACTCT	XP_011511540.1:n.1377+49_1377+50insCAGCCCAACTCT
XM_011513239.1:c.789+49_789+50insCAGCCCAACTCT	XP_011511541.1:n.789+49_789+50insCAGCCCAACTCT
XM_006713789.3:c.1377+49_1377+50insCAGCCCAACTCT	XP_006713852.1:n.1377+49_1377+50insCAGCCCAACTCT
XM_017007324.1:c.1377+49_1377+50insCAGCCCAACTCT	XP_016862813.1:n.1377+49_1377+50insCAGCCCAACTCT
XM_017007325.1:c.1377+49_1377+50insCAGCCCAACTCT	XP_016862814.1:n.1377+49_1377+50insCAGCCCAACTCT
NM_000388.4:c.1377+49_1377+50insCAGCCCAACTCT MANE Select	NP_000379.3:n.1377+49_1377+50insCAGCCCAACTCT
NM_001178065.2:c.1377+49_1377+50insCAGCCCAACTCT	NP_001171536.2:n.1377+49_1377+50insCAGCCCAACTCT