Canonical Allele Identifier: CA2838031931

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122283692_122283697del , CM000665.2:g.122283692_122283697del	GRCh38
NC_000003.11:g.122002539_122002544del , CM000665.1:g.122002539_122002544del	GRCh37
NC_000003.10:g.123485229_123485234del	NCBI36
NG_009058.1:g.105010_105015del
NG_009058.2:g.105025_105030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1507_1512del	ENSP00000418685.2:p.Ser503_Ala504del
ENST00000498619.4:c.1768_1773del	ENSP00000420194.1:p.Ser590_Ala591del
ENST00000638421.1:c.1738_1743del	ENSP00000492190.1:p.Ser580_Ala581del
ENST00000639785.2:c.1738_1743del MANE Select	ENSP00000491584.2:p.Ser580_Ala581del
ENST00000490131.5:c.1738_1743del	ENSP00000418685.1:p.Ser580_Ala581del
ENST00000498619.2:c.1768_1773del	ENSP00000420194.1:p.Ser590_Ala591del
NM_000388.3:c.1738_1743del	NP_000379.2:p.Ser580_Ala581del
NM_001178065.1:c.1768_1773del	NP_001171536.1:p.Ser590_Ala591del
XM_005247836.2:c.1738_1743del	XP_005247893.1:p.Ser580_Ala581del
XM_005247837.2:c.1255_1260del	XP_005247894.1:p.Ser419_Ala420del
XM_006713789.2:c.1738_1743del	XP_006713852.1:p.Ser580_Ala581del
XM_011513237.1:c.1738_1743del	XP_011511539.1:p.Ser580_Ala581del
XM_011513238.1:c.1738_1743del	XP_011511540.1:p.Ser580_Ala581del
XM_011513239.1:c.1150_1155del	XP_011511541.1:p.Ser384_Ala385del
XM_006713789.3:c.1738_1743del	XP_006713852.1:p.Ser580_Ala581del
XM_017007324.1:c.1738_1743del	XP_016862813.1:p.Ser580_Ala581del
XM_017007325.1:c.1738_1743del	XP_016862814.1:p.Ser580_Ala581del
NM_000388.4:c.1738_1743del MANE Select	NP_000379.3:p.Ser580_Ala581del
NM_001178065.2:c.1768_1773del	NP_001171536.2:p.Ser590_Ala591del