Canonical Allele Identifier: CA2627635366

Gene: SLC12A6

Linked Data

• gnomAD v4: 15-34239092-CAGCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34239093_34239097del , CM000677.2:g.34239093_34239097del	GRCh38
NC_000015.9:g.34531294_34531298del , CM000677.1:g.34531294_34531298del	GRCh37
NC_000015.8:g.32318586_32318590del	NCBI36
NG_007951.1:g.103968_103972del , LRG_270:g.103968_103972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.2500_2504del MANE Select	ENSP00000346112.3:p.Lys834GlufsTer27
ENST00000676379.1:c.2500_2504del	ENSP00000502539.1:p.Lys834GlufsTer27
ENST00000290209.9:c.2347_2351del	ENSP00000290209.5:p.Lys783GlufsTer27
ENST00000354181.7:c.2500_2504del	ENSP00000346112.3:p.Lys834GlufsTer27
ENST00000397702.6:c.2323_2327del	ENSP00000380814.2:p.Lys775GlufsTer27
ENST00000397707.6:c.2455_2459del	ENSP00000380819.2:p.Lys819GlufsTer27
ENST00000458406.6:c.2323_2327del	ENSP00000387725.2:p.Lys775GlufsTer27
ENST00000558589.5:c.2473_2477del	ENSP00000452776.1:p.Lys825GlufsTer27
ENST00000558667.5:c.2500_2504del	ENSP00000453473.1:p.Lys834GlufsTer27
ENST00000558950.1:n.448_452del
ENST00000559523.5:c.2323_2327del	ENSP00000452904.1:p.Lys775GlufsTer27
ENST00000559664.5:c.2500_2504del	ENSP00000453702.1:p.Lys834GlufsTer27
ENST00000560164.5:c.1936_1940del	ENSP00000452705.1:p.Lys646GlufsTer27
ENST00000560611.5:c.2500_2504del	ENSP00000454168.1:p.Lys834GlufsTer27
ENST00000561080.5:c.2500_2504del	ENSP00000454069.1:p.Lys834GlufsTer27
NM_001042494.1:c.2323_2327del	NP_001035959.1:p.Lys775GlufsTer27
NM_001042495.1:c.2323_2327del	NP_001035960.1:p.Lys775GlufsTer27
NM_001042496.1:c.2473_2477del	NP_001035961.1:p.Lys825GlufsTer27
NM_001042497.1:c.2455_2459del	NP_001035962.1:p.Lys819GlufsTer27
NM_005135.2:c.2347_2351del , LRG_270t1:c.2347_2351del	NP_005126.1:p.Lys783GlufsTer27
NM_133647.1:c.2500_2504del , LRG_270t2:c.2500_2504del	NP_598408.1:p.Lys834GlufsTer27
XM_006720793.2:c.2353_2357del	XP_006720856.1:p.Lys785GlufsTer27
XM_011522267.1:c.2500_2504del	XP_011520569.1:p.Lys834GlufsTer27
XM_011522268.1:c.2500_2504del	XP_011520570.1:p.Lys834GlufsTer27
XR_429476.2:n.2506_2510del
XR_931960.1:n.2506_2510del
XR_931961.1:n.2507_2511del
NM_001365088.1:c.2500_2504del MANE Select	NP_001352017.1:p.Lys834GlufsTer27
XM_006720793.4:c.2353_2357del	XP_006720856.1:p.Lys785GlufsTer27
XR_931960.3:n.3750_3754del
NM_001042494.2:c.2323_2327del	NP_001035959.1:p.Lys775GlufsTer27
NM_001042495.2:c.2323_2327del	NP_001035960.1:p.Lys775GlufsTer27
NM_001042496.2:c.2473_2477del	NP_001035961.1:p.Lys825GlufsTer27
NM_001042497.2:c.2455_2459del	NP_001035962.1:p.Lys819GlufsTer27
NM_133647.2:c.2500_2504del	NP_598408.1:p.Lys834GlufsTer27