Canonical Allele Identifier: CA2807160891

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56904694_56904695insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA , CM000678.2:g.56904694_56904695insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	GRCh38
NC_000016.9:g.56938606_56938607insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA , CM000678.1:g.56938606_56938607insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	GRCh37
NC_000016.8:g.55496107_55496108insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	NCBI36
NG_009386.1:g.44488_44489insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA
NG_009386.2:g.44488_44489insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2924+232_2924+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA MANE Select	ENSP00000456149.2:n.2924+232_2924+233insTCCATTACTCTGAGGGTCCCC...
ENST00000262502.5:c.2921+232_2921+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	ENSP00000262502.5:n.2921+232_2921+233insTCCATTACTCTGAGGGTCCCC...
ENST00000438926.6:c.2951+232_2951+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	ENSP00000402152.2:n.2951+232_2951+233insTCCATTACTCTGAGGGTCCCC...
ENST00000563236.5:c.2924+232_2924+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	ENSP00000456149.1:n.2924+232_2924+233insTCCATTACTCTGAGGGTCCCC...
ENST00000566786.5:c.2948+232_2948+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	ENSP00000457552.1:n.2948+232_2948+233insTCCATTACTCTGAGGGTCCCC...
ENST00000569002.1:n.587_588insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA
NM_000339.2:c.2951+232_2951+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	NP_000330.2:n.2951+232_2951+233insTCCATTACTCTGAGGGTCCCCTTCTTC...
NM_001126107.1:c.2948+232_2948+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	NP_001119579.1:n.2948+232_2948+233insTCCATTACTCTGAGGGTCCCCTTC...
NM_001126108.1:c.2924+232_2924+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	NP_001119580.1:n.2924+232_2924+233insTCCATTACTCTGAGGGTCCCCTTC...
XM_005256119.1:c.2921+232_2921+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	XP_005256176.1:n.2921+232_2921+233insTCCATTACTCTGAGGGTCCCCTTC...
XM_005256119.2:c.2921+232_2921+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	XP_005256176.1:n.2921+232_2921+233insTCCATTACTCTGAGGGTCCCCTTC...
NM_000339.3:c.2951+232_2951+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	NP_000330.3:n.2951+232_2951+233insTCCATTACTCTGAGGGTCCCCTTCTTC...
NM_001126107.2:c.2948+232_2948+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA	NP_001119579.2:n.2948+232_2948+233insTCCATTACTCTGAGGGTCCCCTTC...
NM_001126108.2:c.2924+232_2924+233insTCCATTACTCTGAGGGTCCCCTTCTTCCTGGAGACAGGAGACTCTATAAGAATTTATGAGGCAGCAGAGTCTACAAGTAA MANE Select	NP_001119580.2:n.2924+232_2924+233insTCCATTACTCTGAGGGTCCCCTTC...