Canonical Allele Identifier: CA2580089326

Gene: SLC12A6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257786_34257787del , CM000677.2:g.34257786_34257787del	GRCh38
NC_000015.9:g.34549987_34549988del , CM000677.1:g.34549987_34549988del	GRCh37
NC_000015.8:g.32337279_32337280del	NCBI36
NG_007951.1:g.85282_85283del , LRG_270:g.85282_85283del

Transcript Alleles

HGVS	Amino-acid Change
NM_001365088.1:c.549_550del MANE Select	NP_001352017.1:p.Gln184AsnfsTer?
ENST00000354181.8:c.549_550del MANE Select	ENSP00000346112.3:p.Gln184AsnfsTer?
NM_001042494.1:c.372_373del	NP_001035959.1:p.Gln125AsnfsTer?
NM_001042494.2:c.372_373del	NP_001035959.1:p.Gln125AsnfsTer?
NM_001042495.1:c.372_373del	NP_001035960.1:p.Gln125AsnfsTer?
NM_001042495.2:c.372_373del	NP_001035960.1:p.Gln125AsnfsTer?
NM_001042496.1:c.522_523del	NP_001035961.1:p.Gln175AsnfsTer?
NM_001042496.2:c.522_523del	NP_001035961.1:p.Gln175AsnfsTer?
NM_001042497.1:c.504_505del	NP_001035962.1:p.Gln169AsnfsTer?
NM_001042497.2:c.504_505del	NP_001035962.1:p.Gln169AsnfsTer?
NM_005135.2:c.396_397del , LRG_270t1:c.396_397del	NP_005126.1:p.Gln133AsnfsTer?
NM_133647.1:c.549_550del , LRG_270t2:c.549_550del	NP_598408.1:p.Gln184AsnfsTer?
NM_133647.2:c.549_550del	NP_598408.1:p.Gln184AsnfsTer?
ENST00000290209.9:c.396_397del	ENSP00000290209.5:p.Gln133AsnfsTer?
ENST00000354181.7:c.549_550del	ENSP00000346112.3:p.Gln184AsnfsTer?
ENST00000397702.6:c.372_373del	ENSP00000380814.2:p.Gln125AsnfsTer?
ENST00000397707.6:c.504_505del	ENSP00000380819.2:p.Gln169AsnfsTer?
ENST00000458406.6:c.372_373del	ENSP00000387725.2:p.Gln125AsnfsTer?
ENST00000558589.5:c.522_523del	ENSP00000452776.1:p.Gln175AsnfsTer?
ENST00000558667.5:c.549_550del	ENSP00000453473.1:p.Gln184AsnfsTer?
ENST00000559523.5:c.372_373del	ENSP00000452904.1:p.Gln125AsnfsTer?
ENST00000559664.5:c.549_550del	ENSP00000453702.1:p.Gln184AsnfsTer?
ENST00000560164.5:c.126+1030_126+1031del	ENSP00000452705.1:n.126+1030_126+1031del
ENST00000560332.1:c.132_133del	ENSP00000454037.1:p.Gln45AsnfsTer?
ENST00000560611.5:c.549_550del	ENSP00000454168.1:p.Gln184AsnfsTer?
ENST00000561080.5:c.549_550del	ENSP00000454069.1:p.Gln184AsnfsTer?
ENST00000675289.1:n.1331_1332del
ENST00000676379.1:c.549_550del	ENSP00000502539.1:p.Gln184AsnfsTer?
XM_006720793.2:c.543+1030_543+1031del	XP_006720856.1:n.543+1030_543+1031del
XM_006720793.4:c.543+1030_543+1031del	XP_006720856.1:n.543+1030_543+1031del
XM_011522267.1:c.549_550del	XP_011520569.1:p.Gln184AsnfsTer?
XM_011522268.1:c.549_550del	XP_011520570.1:p.Gln184AsnfsTer?
XM_011522269.1:c.549_550del	XP_011520571.1:p.Gln184AsnfsTer?
XM_011522269.3:c.549_550del	XP_011520571.1:p.Gln184AsnfsTer?
XR_429476.2:n.555_556del
XR_931960.1:n.555_556del
XR_931960.3:n.1799_1800del
XR_931961.1:n.555_556del