Canonical Allele Identifier: CA2627633433

Gene: SLC12A6

Linked Data

• gnomAD v4: 15-34257773-TACCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257775_34257778del , CM000677.2:g.34257775_34257778del	GRCh38
NC_000015.9:g.34549976_34549979del , CM000677.1:g.34549976_34549979del	GRCh37
NC_000015.8:g.32337268_32337271del	NCBI36
NG_007951.1:g.85288_85291del , LRG_270:g.85288_85291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.555_558del MANE Select	ENSP00000346112.3:p.Met185IlefsTer17
ENST00000675289.1:n.1337_1340del
ENST00000676379.1:c.555_558del	ENSP00000502539.1:p.Met185IlefsTer17
ENST00000290209.9:c.402_405del	ENSP00000290209.5:p.Met134IlefsTer17
ENST00000354181.7:c.555_558del	ENSP00000346112.3:p.Met185IlefsTer17
ENST00000397702.6:c.378_381del	ENSP00000380814.2:p.Met126IlefsTer17
ENST00000397707.6:c.510_513del	ENSP00000380819.2:p.Met170IlefsTer17
ENST00000458406.6:c.378_381del	ENSP00000387725.2:p.Met126IlefsTer17
ENST00000558589.5:c.528_531del	ENSP00000452776.1:p.Met176IlefsTer17
ENST00000558667.5:c.555_558del	ENSP00000453473.1:p.Met185IlefsTer17
ENST00000559523.5:c.378_381del	ENSP00000452904.1:p.Met126IlefsTer17
ENST00000559664.5:c.555_558del	ENSP00000453702.1:p.Met185IlefsTer17
ENST00000560164.5:c.126+1036_126+1039del	ENSP00000452705.1:n.126+1036_126+1039del
ENST00000560332.1:c.138_141del	ENSP00000454037.1:p.Met46IlefsTer17
ENST00000560611.5:c.555_558del	ENSP00000454168.1:p.Met185IlefsTer17
ENST00000561080.5:c.555_558del	ENSP00000454069.1:p.Met185IlefsTer17
NM_001042494.1:c.378_381del	NP_001035959.1:p.Met126IlefsTer17
NM_001042495.1:c.378_381del	NP_001035960.1:p.Met126IlefsTer17
NM_001042496.1:c.528_531del	NP_001035961.1:p.Met176IlefsTer17
NM_001042497.1:c.510_513del	NP_001035962.1:p.Met170IlefsTer17
NM_005135.2:c.402_405del , LRG_270t1:c.402_405del	NP_005126.1:p.Met134IlefsTer17
NM_133647.1:c.555_558del , LRG_270t2:c.555_558del	NP_598408.1:p.Met185IlefsTer17
XM_006720793.2:c.543+1036_543+1039del	XP_006720856.1:n.543+1036_543+1039del
XM_011522267.1:c.555_558del	XP_011520569.1:p.Met185IlefsTer17
XM_011522268.1:c.555_558del	XP_011520570.1:p.Met185IlefsTer17
XM_011522269.1:c.555_558del	XP_011520571.1:p.Met185IlefsTer17
XR_429476.2:n.561_564del
XR_931960.1:n.561_564del
XR_931961.1:n.561_564del
NM_001365088.1:c.555_558del MANE Select	NP_001352017.1:p.Met185IlefsTer17
XM_006720793.4:c.543+1036_543+1039del	XP_006720856.1:n.543+1036_543+1039del
XM_011522269.3:c.555_558del	XP_011520571.1:p.Met185IlefsTer17
XR_931960.3:n.1805_1808del
NM_001042494.2:c.378_381del	NP_001035959.1:p.Met126IlefsTer17
NM_001042495.2:c.378_381del	NP_001035960.1:p.Met126IlefsTer17
NM_001042496.2:c.528_531del	NP_001035961.1:p.Met176IlefsTer17
NM_001042497.2:c.510_513del	NP_001035962.1:p.Met170IlefsTer17
NM_133647.2:c.555_558del	NP_598408.1:p.Met185IlefsTer17